Allele Registry

Canonical Allele Identifier: PA2826204730

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001312364

RCV001721227

RCV001808500

ClinVar Variation:

207305

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182461.1:p.Glu2352Lys	CA318645 NM_001195532.2:c.7054G>A