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.Glu504Asp
CA401699700
ENST00000688342.1:c.1512A>C
CA401699702
ENST00000688342.1:c.1512A>T