Allele Registry

Canonical Allele Identifier: PA2828112290

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189428

RCV000528432

RCV001808475

ClinVar Variation:

207259

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Ala288Pro	CA318558 NM_001363765.2:c.862G>C