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
ENSP00000326603.7:p.Gln396His
CA401697144
ENST00000320876.11:c.1188A>C
CA401697148
ENST00000320876.11:c.1188A>T