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: BBS2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507981.1:p.[Val15_Phe16insLeu;His18_Pro20delinsIleLeuIle;His21_Thr22insGly;Arg23_Gln25delinsSerMetSerVal;Val27_Ala29delinsProGlySer;Val32_Pro36delinsAlaProTrpAsn;Glu38_Ser42delinsMetPhe;Leu44Phe;Ile46Ala]
CA1139532342
ENST00000682930.1:c.48del