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_011523947.1:p.Asp247Glu
CA401697937
XM_011525645.1:c.741T>A
CA401697939
XM_011525645.1:c.741T>G