Allele Registry

Canonical Allele Identifier: PA2828113029

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000636432

RCV000839031

RCV001809709

ClinVar Variation:

530530

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Arg1365Trp	CA5265135 NM_001363765.2:c.4093C>T