Allele Registry

Canonical Allele Identifier: PA318619

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189462

RCV000704575

RCV001808493

RCV002514065

ClinVar Variation:

207291

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Arg1427His	CA318618 NM_001130438.3:c.4280G>A