Canonical Allele Identifier: PA916051390
Gene: BBS12 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689831.2:p.Gly84Arg
CA358222512
NM_152618.3:c.250G>A
CA358222513
NM_152618.3:c.250G>C