Allele Registry

Canonical Allele Identifier: PA092123

Gene: BBS1 HGNC NCBI

ClinVar RCV:

RCV000029405

RCV000243662

RCV000436346

RCV000988580

ClinVar Variation:

12148

HGVS (amino-acid)	Matching Registered Transcripts
NP_078925.3:p.Glu234Lys	CA260181 NM_024649.5:c.700G>A