Canonical Allele Identifier: PA2827119941
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_001308936.1:p.His746Gln
CA366734799
NM_001322007.2:c.2238C>G
CA366734800
NM_001322007.2:c.2238C>A