Allele Registry

Canonical Allele Identifier: PA2826204619

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000147650

RCV000189543

RCV001236667

RCV004551284

ClinVar Variation:

160024

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182461.1:p.Glu2182del	CA173593 NM_001195532.2:c.6544_6546del