Allele Registry

Canonical Allele Identifier: PA891864726

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000195742

RCV000775362

RCV001546990

ClinVar Variation:

216453

HGVS (amino-acid)	Matching Registered Transcripts
NP_000526.2:p.Asp548Asn	CA044914 NM_000535.7:c.1642G>A