Canonical Allele Identifier: PA2827124193
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187150
ClinVar RCV Id: RCV000166845 RCV000474121 RCV000522983 RCV003995538
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308938.1:p.Ser347Gly
CA009691
NM_001322009.2:c.1039A>G