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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.[Ala107_Ser108del;Pro110_Leu118delinsPhe;Tyr121_Ser125del;Pro127_Gln128delinsCys;Pro130_Gln136delinsCysVal]
CA1139662033
ENST00000533644.5:c.319dup