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_011523944.1:p.Glu394Asp
CA401697079
XM_011525642.1:c.1182A>C
CA401697082
XM_011525642.1:c.1182A>T