Allele Registry

Canonical Allele Identifier: PA2573089409

Gene: SPTBN2 HGNC NCBI

ClinVar RCV:

RCV000760172

RCV001092901

RCV001849187

RCV002533834

ClinVar Variation:

619974

HGVS (amino-acid)	Matching Registered Transcripts
NP_008877.2:p.Arg2370His	CA6127635 NM_006946.4:c.7109G>A