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.Asn391Lys
CA8870705
ENST00000320876.11:c.1173C>A
CA401697014
ENST00000320876.11:c.1173C>G