Allele Registry

Canonical Allele Identifier: PA2828113698

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189544

ClinVar Variation:

207369

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Gln2284_Gly2286dup	CA318767 NM_001363765.2:c.6850_6858dup