Allele Registry

Canonical Allele Identifier: PA318760

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189539

RCV000636383

RCV001808525

RCV002317652

RCV003488443

ClinVar Variation:

207365

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Asp2466Asn	CA318759 NM_001130438.3:c.7396G>A