Allele Registry

Canonical Allele Identifier: PA318768

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189544

ClinVar Variation:

207369

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Gln2304_Gly2306dup	CA318767 NM_001130438.3:c.6910_6918dup