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_011523945.1:p.Met399Leu
CA401697190
XM_011525643.2:c.1195A>C
CA401697194
XM_011525643.2:c.1195A>T