Allele Registry

Canonical Allele Identifier: PA2825192916

Gene: PMS2 HGNC NCBI

ClinVar Variation Id: 1785662

ClinVar RCV Id: RCV002423974

ClinVar Variation Id: 2451592

ClinVar RCV Id: RCV003187288

HGVS (amino-acid)	Matching Registered Transcripts
NP_000526.2:p.Phe696Leu	CA366738022 NM_000535.7:c.2088C>G CA366738023 NM_000535.7:c.2088C>A CA366738029 NM_000535.7:c.2086T>C