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Canonical Allele Identifier: Get Identifier
Gene: BBS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000317469.7:p.[Gly445_Phe452delinsProProCysThrGlyProSerArg;Asp455_Leu456del;Leu458_Arg465delinsThrCysCysAlaTyrValLeuPro;Tyr467_Glu472delinsProThrCysArgProSer;Ser474_Leu475delinsProAla]
CA2614503549
ENST00000318312.11:c.1333_1336del