Allele Registry

Canonical Allele Identifier: PA2828110975

Gene: SPTAN1 HGNC NCBI

ClinVar Allele:

426676

ClinVar RCV:

RCV000501169

RCV000636397

RCV000656023

RCV001809453

RCV002318608

ClinVar Variation:

433113

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Arg1225Trp	CA5265014 NM_001363759.2:c.3673C>T