Allele Registry

Canonical Allele Identifier: PA2828575279

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001785332

ClinVar Variation:

1325795

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362241.2:p.Gln2316_Gly2318del	CA913184752 NM_001375312.2:c.6946_6954del