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.Asp93Glu
CA8870521
XM_011525642.1:c.279T>G
CA401687607
XM_011525642.1:c.279T>A