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.Val234Leu
CA401697698
XM_011525645.1:c.700G>T
CA401697700
XM_011525645.1:c.700G>C