Allele Registry

Canonical Allele Identifier: PA318646

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001312364

RCV001721227

RCV001808500

ClinVar Variation:

207305

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Glu2377Lys	CA318645 NM_001130438.3:c.7129G>A