Allele Registry

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.

Canonical Allele Identifier: PA2829919467

Gene: ABCB4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1685490

ClinVar RCV Id: RCV002249217 RCV003989757

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_061337.1:p.Arg582Trp	CA368035435 NM_018849.3:c.1744C>T