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
ENSP00000508422.1:p.Ile332Leu
CA401694925
ENST00000688342.1:c.994A>T
CA401694926
ENST00000688342.1:c.994A>C