Allele Registry

Canonical Allele Identifier: PA318687

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001236055

RCV001705049

RCV001808513

RCV002514067

ClinVar Variation:

207327

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Ala808Thr	CA318686 NM_001130438.3:c.2422G>A