Allele Registry

Canonical Allele Identifier: PA2828573995

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189545

RCV000416988

RCV001195886

ClinVar Variation:

207370

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362240.1:p.Arg2308_Met2309dup	CA318769 NM_001375311.2:c.6923_6928dup