Allele Registry

Canonical Allele Identifier: PA2828111114

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189462

RCV000704575

RCV001808493

RCV002514065

ClinVar Variation:

207291

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Arg1427His	CA318618 NM_001363759.2:c.4280G>A