Allele Registry

Canonical Allele Identifier: PA2827123113

Gene: PMS2 HGNC NCBI

ClinVar Allele:

152349

ClinVar RCV:

RCV000131960

RCV000168413

RCV000223568

RCV000662631

RCV001193253

RCV003998124

ClinVar Variation:

142635

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308937.1:p.Ser388Leu	CA009752 NM_001322008.2:c.1163C>T