Allele Registry

Canonical Allele Identifier: PA2827119792

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000115687

RCV000196074

RCV000212874

RCV000656952

RCV003153372

RCV003467055

RCV003492487

ClinVar Variation:

127783

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308936.1:p.Arg707Trp	CA011485 NM_001322007.2:c.2119C>T