Allele Registry

Canonical Allele Identifier: PA915981754

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000870021

RCV001705533

RCV002323568

ClinVar Variation:

365166

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Arg1349Trp	CA5265095 NM_003127.4:c.4045C>T