Allele Registry

Canonical Allele Identifier: PA2828576561

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001785332

ClinVar Variation:

1325795

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362242.1:p.Gln2298_Gly2300del	CA913184752 NM_001375313.1:c.6892_6900del