Allele Registry

Canonical Allele Identifier: PA2826204687

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189544

ClinVar Variation:

207369

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182461.1:p.Gln2279_Gly2281dup	CA318767 NM_001195532.2:c.6835_6843dup