Allele Registry

Canonical Allele Identifier: PA2826204467

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV002022932

ClinVar Variation:

1512243

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182461.1:p.Gln2010Lys	CA375086007 NM_001195532.2:c.6028C>A