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Canonical Allele Identifier: Get Identifier
Gene: BBS7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000423626.1:p.[Asp202_Phe209delinsAlaLeuGluLysThrPheCysLeu;Thr211_Lys215delinsHisGlnThrGluAsn;Ala217Arg;Ile219_Glu231delinsTyrArgLeuLeuHisProAsnGlnTyrAlaSerGlyLys]
CA2671949187
ENST00000506636.1:c.605del