Allele Registry

Canonical Allele Identifier: PA318576

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189437

RCV000474925

RCV001705044

RCV001808482

RCV002426915

RCV004553030

ClinVar Variation:

207267

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Gln745Lys	CA318575 NM_001130438.3:c.2233C>A