Allele Registry

Canonical Allele Identifier: PA2828113490

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189472

RCV001852508

ClinVar Variation:

207299

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Ala2030Thr	CA318633 NM_001363765.2:c.6088G>A