Allele Registry

Canonical Allele Identifier: PA658806283

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000636432

RCV000839031

RCV001809709

ClinVar Variation:

530530

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Arg1385Trp	CA5265135 NM_001130438.3:c.4153C>T