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Canonical Allele Identifier: Get Identifier
Gene: BBS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000377563.2:p.[Glu312_Glu314delinsVal;Thr317_Met319delinsGlyTrp;Ala322_Asp326delinsHisAlaProGly;Tyr328_Arg333delinsProAspArgProIlePro;Arg336_Tyr338delinsProThrCysCysProArg;Gln340Pro;Ala341_Leu342insGly]
CA224047731
ENST00000393994.4:c.934_935insT