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: PA2827116430

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1371065

ClinVar RCV Id: RCV001878804 RCV002422936

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308935.1:p.Asp647Asn	CA366738009 NM_001322006.2:c.1939G>A