Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: BBS1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_078925.3:p.Asp148Glu	CA381457308 NM_024649.5:c.444C>A CA381457309 NM_024649.5:c.444C>G