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.Lys314Asn
CA401694647
ENST00000688342.1:c.942G>C
CA401694649
ENST00000688342.1:c.942G>T