Canonical Allele Identifier: PA2580524877
Gene: BBS12 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689831.2:p.Arg55Ser
CA358222328
NM_152618.3:c.165G>C
CA358222329
NM_152618.3:c.165G>T