Canonical Allele Identifier: PA2827118406
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135934
ClinVar RCV Id: RCV000123075 RCV000572231 RCV002466437 RCV003997413
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308936.1:p.Met347Val
CA009542
NM_001322007.2:c.1039A>G