Allele Registry

Canonical Allele Identifier: PA2828111658

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV001785332

ClinVar Variation:

1325795

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Gln2325_Gly2327del	CA913184752 NM_001363759.2:c.6973_6981del