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_011523949.1:p.Glu313Asp
CA401694628
XM_011525647.1:c.939G>C
CA401694631
XM_011525647.1:c.939G>T