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Canonical Allele Identifier: Get Identifier
Gene: BBS2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000508064.1:p.[Asn121_Leu125delinsLeuCysSerCysAla;Thr127_Leu128delinsAspIle;Asp130_Ser133delinsArgHisPhePhe;Leu135_Gly146delinsSerCysAspTyrTrpTrpGlnLeuCysSerAlaArg;Asn148_Gly151delinsGln]
CA2695197667
ENST00000682088.1:c.361_367delinsTTATGCAG