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.[Asn140_Asp148delinsGluProGlyGlnArgGlyProAsnArg;Thr151_Ile169delinsAsnProGluGlyAspAlaGlyGluHisProGlyAspGlyArgGlyAlaPheValHis]
CA2840488866
ENST00000393994.4:c.417dup