Canonical Allele Identifier: PA2827138519
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1780016
ClinVar RCV Id: RCV002404110

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308944.1:p.Leu491Phe
CA153227653
NM_001322015.1:c.1473A>T
CA366739881
NM_001322015.1:c.1473A>C