Allele Registry

Canonical Allele Identifier: PA2828113005

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000870021

RCV001705533

RCV002323568

ClinVar Variation:

365166

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Arg1329Trp	CA5265095 NM_001363765.2:c.3985C>T