Allele Registry

Canonical Allele Identifier: PA2828112461

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000310205

RCV001855204

ClinVar Variation:

288315

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Glu510Lys	CA5264424 NM_001363765.2:c.1528G>A