Allele Registry

Canonical Allele Identifier: PA916044178

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000636277

ClinVar Variation:

530418

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Arg2124Cys	CA375088545 NM_001363759.2:c.6370C>T