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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:
CA376676467
Gene: RBP3
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr10:g.48385949T>G (hg19)
chr10:g.47353413A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.47353413A>C , CM000672.2:g.47353413A>C
GRCh38
NC_000010.10:g.48385949T>G , CM000672.1:g.48385949T>G
GRCh37
NC_000010.9:g.48005955T>G
NCBI36
NG_029718.1:g.10043A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000584701.2:c.3143A>C
MANE Select
ENSP00000463151.1:p.Asp1048Ala
ENST00000584701.1:c.3143A>C
ENSP00000463151.1:p.Asp1048Ala
NM_002900.2:c.3143A>C
NP_002891.1:p.Asp1048Ala
NM_002900.3:c.3143A>C
MANE Select
NP_002891.1:p.Asp1048Ala
Search 100 bp 5'
Search 100 bp 3'