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Canonical Allele Identifier: Get Identifier
Gene: BBS2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_114091.3:p.[Gln59_Ser60delinsArgAla;Pro61_Leu62insTrpAsn;Glu63_Val66delinsMetPheLeuPhe;Leu68Thr;Asn70_Asn72delinsThrArg;Ala74_Val75del;Cys77_Thr79del;Gly81del;Leu83_Gly88del]
CA2499223582
NM_031885.4:c.175del