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: PA2828509875

Gene: ATP8B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288710

ClinVar RCV Id: RCV000382438 RCV000791070 RCV000370144 RCV002521997

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361315.1:p.Thr127Met	CA8974818 NM_001374386.1:c.380C>T