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_011523945.1:p.Gly384Arg
CA401696881
XM_011525643.2:c.1150G>A
CA401696882
XM_011525643.2:c.1150G>C