Allele Registry

Canonical Allele Identifier: PA2828112769

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189444

RCV001058848

RCV001288013

RCV001808485

RCV003258690

ClinVar Variation:

207274

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Thr963Met	CA318588 NM_001363765.2:c.2888C>T