Allele Registry

Canonical Allele Identifier: PA2828112311

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000636326

RCV000727121

RCV001808507

ClinVar Variation:

207315

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Arg320His	CA318662 NM_001363765.2:c.959G>A