Canonical Allele Identifier: PA2827113836
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 821485
ClinVar Variation Id: 1041782
ClinVar RCV Id: RCV001345637

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308934.1:p.His717Gln
CA366734799
NM_001322005.2:c.2151C>G
CA366734800
NM_001322005.2:c.2151C>A