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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.[Glu344_Glu346delinsVal;Thr349_Met351delinsGlyTrp;Ala354_Asp358delinsHisAlaProGly;Tyr360_Arg365delinsProAspArgProIlePro;Arg368_Tyr370delinsProThrCysCysProArg;Gln372Pro;Ala373_Leu374insGly]
CA224047731
ENST00000455748.6:c.1030_1031insT