Allele Registry

Canonical Allele Identifier: PA2828113835

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189539

RCV000636383

RCV001808525

RCV002317652

RCV003488443

ClinVar Variation:

207365

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Asp2446Asn	CA318759 NM_001363765.2:c.7336G>A