Allele Registry

Canonical Allele Identifier: PA2827138921

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV002424287

ClinVar Variation:

1785975

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308944.1:p.Ala599Asp	CA366737986 NM_001322015.1:c.1796C>A