Canonical Allele Identifier: PA2827112993
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1913625
ClinVar RCV Id: RCV002593999 RCV003111582 RCV004007501
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308934.1:p.Arg493Pro
CA366739438
NM_001322005.2:c.1478G>C