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
NP_056110.2:p.Ser318Arg
CA401694715
NM_015295.3:c.952A>C
CA401694730
NM_015295.3:c.954C>A
CA401694732
NM_015295.3:c.954C>G