Allele Registry

Canonical Allele Identifier: PA2828576413

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV002022932

ClinVar Variation:

1512243

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362242.1:p.Gln2035Lys	CA375086007 NM_001375313.1:c.6103C>A