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: SPTBN1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_005264575.1:p.Met74Leu	CA346855663 XM_005264518.2:c.220A>T CA346855667 XM_005264518.2:c.220A>C