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: SBDS HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_057122.2:p.Lys248Asn	CA367643976 NM_016038.2:c.744A>T CA367643978 NM_016038.2:c.744A>C