Allele Registry

Canonical Allele Identifier: PA2828577838

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189545

RCV000416988

RCV001195886

ClinVar Variation:

207370

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362243.1:p.Arg2288_Met2289dup	CA318769 NM_001375314.2:c.6863_6868dup