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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
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Canonical Allele Identifier:
CA377619244
Gene: RBP4
HGNC
NCBI
FFAR4
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr10:g.95361424T>G (hg19)
chr10:g.93601667T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.93601667T>G , CM000672.2:g.93601667T>G
GRCh38
NC_000010.10:g.95361424T>G , CM000672.1:g.95361424T>G
GRCh37
NC_000010.9:g.95351414T>G
NCBI36
NG_009104.1:g.4570A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000371469.2:c.50A>C
(RBP4)
ENSP00000360524.2:p.Glu17Ala
ENST00000604414.1:c.697-2407T>G
(FFAR4)
ENSP00000474477.1:n.697-2407T>G
ENST00000629763.2:c.47+3A>C
(RBP4)
ENSP00000487033.1:n.47+3A>C
NM_001323518.1:c.50A>C
(RBP4)
NP_001310447.1:p.Glu17Ala
NM_001323518.2:c.50A>C
(RBP4)
NP_001310447.1:p.Glu17Ala
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