Canonical Allele Identifier: PA2827131709
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422283
ClinVar RCV Id: RCV000485467 RCV002420234
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308941.1:p.Thr392Lys
CA16618491
NM_001322012.1:c.1175C>A