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: SGSH HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000190.1:p.Thr448Ser	CA401358638 NM_000199.5:c.1343C>G CA401358641 NM_000199.5:c.1342A>T