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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.[Gly445_Phe452delinsProProCysThrGlyProSerArg;Asp455_Leu456del;Leu458_Arg465delinsThrCysCysAlaTyrValLeuPro;Tyr467_Glu472delinsProThrCysArgProSer;Ser474_Leu475delinsProAla]
CA2614503549
NM_024649.5:c.1333_1336del