Allele Registry

Canonical Allele Identifier: PA2826203774

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000431442

RCV003766238

ClinVar Variation:

381700

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182461.1:p.Arg984Gln	CA16605516 NM_001195532.2:c.2951G>A