Allele Registry

Canonical Allele Identifier: PA916044202

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189544

ClinVar Variation:

207369

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Gln2325_Gly2327dup	CA318767 NM_001363759.2:c.6973_6981dup