Canonical Allele Identifier: PA2827127562
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 455678
ClinVar RCV Id: RCV000540101
ClinVar Variation Id: 1784347
ClinVar RCV Id: RCV002417284

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308939.1:p.Ser482Arg
CA366738200
NM_001322010.2:c.1446T>G
CA366738201
NM_001322010.2:c.1446T>A
CA366738852
NM_001322010.2:c.1444A>C