Allele Registry

Canonical Allele Identifier: PA658806245

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000598140

RCV001867957

RCV002377233

ClinVar Variation:

499742

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Ser1322Asn	CA5265082 NM_001130438.3:c.3965G>A