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.Phe411Leu
CA401697450
NM_015295.3:c.1231T>C
CA401697461
NM_015295.3:c.1233T>A
CA401697462
NM_015295.3:c.1233T>G