Allele Registry

Canonical Allele Identifier: PA2828112404

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000128230

RCV000454129

RCV000458268

RCV000988260

RCV001357611

RCV002312608

ClinVar Variation:

139269

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Val444Ile	CA173535 NM_001363765.2:c.1330G>A