Allele Registry

Canonical Allele Identifier: PA645500814

Gene: BBS9 HGNC NCBI

ClinVar Allele:

240082

ClinVar RCV:

RCV000514762

RCV001086797

RCV003151001

ClinVar Variation:

242248

HGVS (amino-acid)	Matching Registered Transcripts
NP_940820.1:p.Leu779Gln	CA4214668 NM_198428.3:c.2336T>A