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.Asp58Glu	CA381455602 NM_024649.5:c.174C>G CA381455604 NM_024649.5:c.174C>A