Allele Registry

Canonical Allele Identifier: PA2828576563

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189545

RCV000416988

RCV001195886

ClinVar Variation:

207370

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362242.1:p.Arg2302_Met2303dup	CA318769 NM_001375313.1:c.6905_6910dup