Allele Registry

Canonical Allele Identifier: PA2827134130

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV002424287

ClinVar Variation:

1785975

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308942.1:p.Ala511Asp	CA366737986 NM_001322013.1:c.1532C>A