Allele Registry

Canonical Allele Identifier: PA318634

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189472

RCV001852508

ClinVar Variation:

207299

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Ala2050Thr	CA318633 NM_001130438.3:c.6148G>A