Allele Registry

Canonical Allele Identifier: PA2828110314

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189490

RCV003765205

ClinVar Variation:

207317

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Ser416Asn	CA318666 NM_001363759.2:c.1247G>A