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: PA2828510025

Gene: ATP8B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7269

ClinVar RCV Id: RCV000007692 RCV000734790 RCV004547465

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001361315.1:p.Asp504Asn