Allele Registry

Canonical Allele Identifier: PA2827131706

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV002424290

ClinVar Variation:

1785978

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308941.1:p.Ala391Val	CA366737984 NM_001322012.1:c.1172C>T