Allele Registry

Canonical Allele Identifier: PA2825372397

Gene: BBS9 HGNC NCBI

ClinVar Allele:

240082

ClinVar RCV:

RCV000514762

RCV001086797

RCV003151001

ClinVar Variation:

242248

HGVS (amino-acid)	Matching Registered Transcripts
NP_001028777.1:p.Leu774Gln	CA4214668 NM_001033605.2:c.2321T>A