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Canonical Allele Identifier: Get Identifier
Gene: BBS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000436073.1:p.[Ala142Pro;Lys143_Glu144insArg;Gly145_Thr156delinsThrAlaGluGluProLeuSerIleGlnSerLeuArgPheLeu;Val158delinsLeuGluLeu;Ala160_Gly162delinsGluMetGlu;Lys164delinsPheValAsn]
CA2695214784
ENST00000533644.5:c.424del