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Canonical Allele Identifier: Get Identifier
Gene: BBS2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507773.1:p.[Val40_Phe41insLeu;His43_Pro45delinsIleLeuIle;His46_Thr47insGly;Arg48_Gln50delinsSerMetSerVal;Val52_Ala54delinsProGlySer;Val57_Pro61delinsAlaProTrpAsn;Glu63_Ser67delinsMetPhe;Leu69Phe;Ile71Ala]
CA1139532342
ENST00000682658.1:c.123del