Allele Registry

Canonical Allele Identifier: PA916044191

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000029155

RCV000657889

ClinVar Variation:

35483

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350688.1:p.Gln2202del	CA129923 NM_001363759.2:c.6605_6607del