Canonical Allele Identifier: PA2827133880
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 188248
ClinVar RCV Id: RCV000168211 RCV000220002 RCV003318558 RCV003995612
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.His443Arg
CA010440
NM_001322013.1:c.1328A>G