Allele Registry

Canonical Allele Identifier: PA2828113078

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189510

RCV000636442

RCV001808515

ClinVar Variation:

207336

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Arg1417His	CA318703 NM_001363765.2:c.4250G>A