Allele Registry

Canonical Allele Identifier: PA2828575231

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000147650

RCV000189543

RCV001236667

RCV004551284

ClinVar Variation:

160024

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362241.2:p.Glu2219del	CA173593 NM_001375312.2:c.6655_6657del