Allele Registry

Canonical Allele Identifier: PA2829417733

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000147650

RCV000189543

RCV001236667

RCV004551284

ClinVar Variation:

160024

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Glu2202del	CA173593 NM_003127.4:c.6604_6606del