Allele Registry

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: SMC1A HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_006297.2:p.Lys446Asn	CA413255810 NM_006306.4:c.1338G>T CA413255811 NM_006306.4:c.1338G>C