Allele Registry

Canonical Allele Identifier: PA2828575281

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189545

RCV000416988

RCV001195886

ClinVar Variation:

207370

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362241.2:p.Arg2320_Met2321dup	CA318769 NM_001375312.2:c.6959_6964dup