Allele Registry

Canonical Allele Identifier: PA916044207

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001312364

RCV001721227

RCV001808500

ClinVar Variation:

207305

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Glu2398Lys	CA318645 NM_001363759.2:c.7192G>A