Canonical Allele Identifier: PA2827097383
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1402517
ClinVar RCV Id: RCV001896968
ClinVar Variation Id: 1934090
ClinVar RCV Id: RCV002631674

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308932.1:p.Val80Leu
CA366743927
NM_001322003.2:c.238G>C
CA366743928
NM_001322003.2:c.238G>T