Allele Registry

Canonical Allele Identifier: PA2828110956

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000441970

RCV001345703

RCV001808816

RCV002525397

ClinVar Variation:

385475

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.His1200Arg	CA5264988 NM_001363759.2:c.3599A>G