Allele Registry

Canonical Allele Identifier: PA2829417873

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001312364

RCV001721227

RCV001808500

ClinVar Variation:

207305

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Glu2372Lys	CA318645 NM_003127.4:c.7114G>A