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
ENSP00000377563.2:p.[Ala142_Asp148delinsGlyGlnArgGlyProAsnArg;Thr151_Ser171delinsAsnProGluGlyAspAlaGlyGluHisProGlyAspGlyArgGlyAlaPheValHisProVal]
CA2839783138
ENST00000393994.4:c.424dup