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: SMCHD1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000508422.1:p.Met399Leu	CA401697190 ENST00000688342.1:c.1195A>C CA401697194 ENST00000688342.1:c.1195A>T