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Canonical Allele Identifier: Get Identifier
Gene: BBS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000405764.2:p.[Gly348_Phe355delinsProProCysThrGlyProSerArg;Asp358_Leu359del;Leu361_Arg368delinsThrCysCysAlaTyrValLeuPro;Tyr370_Glu375delinsProThrCysArgProSer;Ser377_Leu378delinsProAla]
CA2614503549
ENST00000455748.6:c.1042_1045del