Allele Registry

Canonical Allele Identifier: PA915981747

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000598140

RCV001867957

RCV002377233

ClinVar Variation:

499742

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Ser1322Asn	CA5265082 NM_003127.4:c.3965G>A