Allele Registry

Canonical Allele Identifier: PA2499255429

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189545

RCV000416988

RCV001195886

ClinVar Variation:

207370

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362247.1:p.Arg2341_Met2342dup	CA318769 NM_001375318.1:c.7022_7027dup