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: PA913199187

Gene: ABCB4 HGNC NCBI

Linked Data

ClinVar Variation Id: 595752

ClinVar RCV Id: RCV000731391

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_061337.1:p.Gly622Trp	CA368034526 NM_018849.3:c.1864G>T