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: PA2573169131

Gene: PAFAH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1507146

ClinVar RCV Id: RCV002009346

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000421.1:p.Cys281Gly	CA397641979 NM_000430.4:c.841T>G