Allele Registry

Canonical Allele Identifier: PA916044182

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000415933

RCV001034128

RCV001808521

ClinVar Variation:

207352

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Arg2142Cys	CA318734 NM_001363759.2:c.6424C>T