Allele Registry

Canonical Allele Identifier: PA2828112409

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000700851

RCV001703500

RCV001808795

ClinVar Variation:

378652

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Glu447Lys	CA5264373 NM_001363765.2:c.1339G>A