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_011523946.1:p.Gln217His
CA401695207
XM_011525644.1:c.651G>C
CA401695209
XM_011525644.1:c.651G>T