Allele Registry

Canonical Allele Identifier: PA2826204582

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189528

RCV000549789

RCV001262535

RCV002317651

RCV003221842

ClinVar Variation:

207354

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182461.1:p.Lys2138Arg	CA318738 NM_001195532.2:c.6413A>G