Allele Registry

Canonical Allele Identifier: PA2827129263

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000217300

RCV000539116

RCV001355968

ClinVar Variation:

230281

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308940.1:p.Lys250Thr	CA10578665 NM_001322011.2:c.749A>C