Allele Registry

Canonical Allele Identifier: PA2829417991

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189539

RCV000636383

RCV001808525

RCV002317652

RCV003488443

ClinVar Variation:

207365

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Asp2461Asn	CA318759 NM_003127.4:c.7381G>A