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Canonical Allele Identifier: Get Identifier
Gene: BBS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.[Glu441_Glu443delinsVal;Thr446_Met448delinsGlyTrp;Ala451_Asp455delinsHisAlaProGly;Tyr457_Arg462delinsProAspArgProIlePro;Arg465_Tyr467delinsProThrCysCysProArg;Gln469Pro;Ala470_Leu471insGly]
CA224047731
NM_024649.5:c.1321_1322insT