Allele Registry

Canonical Allele Identifier: PA2828112202

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189426

RCV001510356

RCV001808474

RCV004020292

ClinVar Variation:

207257

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Arg139Gln	CA318555 NM_001363765.2:c.416G>A