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.Phe223Leu
CA401697450
XM_011525645.1:c.667T>C
CA401697461
XM_011525645.1:c.669T>A
CA401697462
XM_011525645.1:c.669T>G