Canonical Allele Identifier: PA2827112203
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 185424
ClinVar RCV Id: RCV000164844 RCV000206128 RCV000433523 RCV000987833 RCV002485018 RCV001358227
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308934.1:p.Arg292His
CA009478
NM_001322005.2:c.875G>A