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_016881173.1:p.Lys197Asn
CA401696900
XM_017025684.1:c.591G>C
CA401696901
XM_017025684.1:c.591G>T