Canonical Allele Identifier: PA2827133895
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1782605
ClinVar RCV Id: RCV002410638

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Ser448Arg
CA366739266
NM_001322013.1:c.1344T>G
CA366739269
NM_001322013.1:c.1344T>A
CA366739282
NM_001322013.1:c.1342A>C