Canonical Allele Identifier: PA2829888672
Gene: BBS7 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060660.2:p.Gly264Arg
CA104766063
NM_018190.4:c.790G>A
CA358064382
NM_018190.4:c.790G>C