Allele Registry

Canonical Allele Identifier: PA2826204262

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000425545

RCV000727624

RCV001521448

RCV001808818

ClinVar Variation:

386867

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182461.1:p.Gly1724Arg	CA5265407 NM_001195532.2:c.5170G>A CA375074626 NM_001195532.2:c.5170G>C