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.Glu313del
CA401694601
XM_011525643.2:c.934G>T
CA401694620
XM_011525643.2:c.937G>T