Allele Registry

Canonical Allele Identifier: PA658806404

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000636277

ClinVar Variation:

530418

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Arg2124Cys	CA375088545 NM_001130438.3:c.6370C>T