Allele Registry

Canonical Allele Identifier: PA2828110050

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189484

RCV001439173

RCV001808503

ClinVar Variation:

207311

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Arg123His	CA318654 NM_001363759.2:c.368G>A