Canonical Allele Identifier: PA265993
Gene: BBS12 HGNC NCBI
ClinVar Allele:
78956
ClinVar RCV:
RCV000058869
ClinVar Variation:
68065
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171478.1:p.Pro108Arg
CA265992
NM_001178007.2:c.323C>G