Canonical Allele Identifier: PA2827127605
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2124447
ClinVar RCV Id: RCV003057166

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308939.1:p.Gln494Lys
CA366738124
NM_001322010.2:c.1480C>A