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
XP_016859837.1:p.Ile78Leu	CA349879701 XM_017004348.1:c.232A>T CA349879704 XM_017004348.1:c.232A>C