Canonical Allele Identifier: PA2827102033
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41709
ClinVar RCV Id: RCV000034624 RCV000115676 RCV000199450 RCV000411225 RCV000417397 RCV000515268 RCV001081398 RCV001798066 RCV003492332
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308932.1:p.Val582Met
CA010907
NM_001322003.2:c.1744G>A