Allele Registry

Canonical Allele Identifier: PA2828167495

Gene: NBEAL2 HGNC NCBI

ClinVar RCV:

RCV000281014

RCV000893189

RCV001270527

RCV001821049

RCV003910360

ClinVar Variation:

345683

HGVS (amino-acid)	Matching Registered Transcripts
NP_001352045.1:p.Arg2255Gln	CA2361979 NM_001365116.2:c.6764G>A