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_011523949.1:p.Lys414Asn
CA401697509
XM_011525647.1:c.1242A>C
CA401697512
XM_011525647.1:c.1242A>T