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
XP_016881173.1:p.Met211Leu	CA401697190 XM_017025684.1:c.631A>C CA401697194 XM_017025684.1:c.631A>T