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: PA2829919466

Gene: ABCB4 HGNC NCBI

Linked Data

ClinVar Variation Id: 802327

ClinVar RCV Id: RCV000987910 RCV003158272

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_061337.1:p.Arg582Gln	CA4327213 NM_018849.3:c.1745G>A