Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: PMS1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307976.1:p.Ile78Leu	CA349879701 NM_001321047.2:c.232A>T CA349879704 NM_001321047.2:c.232A>C