Allele Registry

Canonical Allele Identifier: PA916044224

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000224859

RCV000807806

RCV001808583

ClinVar Variation:

235617

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Arg2493Cys	CA5266105 NM_001363759.2:c.7477C>T