Allele Registry

Canonical Allele Identifier: PA2827116726

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000566590

RCV001350662

ClinVar Variation:

484267

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308935.1:p.Asn723Ile	CA366735989 NM_001322006.2:c.2168A>T