Allele Registry

Canonical Allele Identifier: PA2828110865

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000413240

RCV001514611

RCV001808790

ClinVar Variation:

373461

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Arg1054His	CA5264866 NM_001363759.2:c.3161G>A