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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA5609723
Gene: RBP4
HGNC
NCBI
FFAR4
HGNC
NCBI
Linked Data
dbSNP Id:
rs562762715
ExAC:
10:95361427 G / C
gnomAD v2:
10-95361427-G-C
gnomAD v3:
10-93601670-G-C
gnomAD v4:
10-93601670-G-C
MyVariant Identifiers:
chr10:g.95361427G>C (hg19)
chr10:g.93601670G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.93601670G>C , CM000672.2:g.93601670G>C
GRCh38
NC_000010.10:g.95361427G>C , CM000672.1:g.95361427G>C
GRCh37
NC_000010.9:g.95351417G>C
NCBI36
NG_009104.1:g.4567C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000371469.2:c.47C>G
(RBP4)
ENSP00000360524.2:p.Thr16Arg
ENST00000604414.1:c.697-2404G>C
(FFAR4)
ENSP00000474477.1:n.697-2404G>C
ENST00000629763.2:c.47C>G
(RBP4)
ENSP00000487033.1:p.Thr16Arg
NM_001323518.1:c.47C>G
(RBP4)
NP_001310447.1:p.Thr16Arg
NM_001323518.2:c.47C>G
(RBP4)
NP_001310447.1:p.Thr16Arg
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