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: PA916025516

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 455639

ClinVar RCV Id: RCV000560160 RCV002256339

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Ala38Ser	CA366745043 NM_001322014.1:c.112G>T