Allele Registry

Canonical Allele Identifier: PA2828113713

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000636363

ClinVar Variation:

530483

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Lys2318Glu	CA375099898 NM_001363765.2:c.6952A>G