Allele Registry

Canonical Allele Identifier: PA2826204214

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001346568

RCV001697975

RCV001809699

RCV004024947

ClinVar Variation:

511730

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182461.1:p.Lys1639Arg	CA5265353 NM_001195532.2:c.4916A>G