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: PA123363

Gene: ABCB4 HGNC NCBI

Linked Data

ClinVar Variation Id: 13692

ClinVar RCV Id: RCV000014691 RCV000267429

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000434.1:p.Pro1161Ser	CA123362 NM_000443.4:c.3481C>T