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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011523948.1:p.Asp397Glu
CA401697166
XM_011525646.1:c.1191C>A
CA401697168
XM_011525646.1:c.1191C>G