Allele Registry

Canonical Allele Identifier: PA2828577788

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000147650

RCV000189543

RCV001236667

RCV004551284

ClinVar Variation:

160024

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362243.1:p.Glu2187del	CA173593 NM_001375314.2:c.6559_6561del