Canonical Allele Identifier: PA2829888948
Gene: BBS7 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060660.2:p.Arg669Ser
CA358054209
NM_018190.4:c.2007A>T
CA358054210
NM_018190.4:c.2007A>C