Canonical Allele Identifier: PA916051391
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 68065
ClinVar RCV Id: RCV000058869
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689831.2:p.Pro108Arg
CA265992
NM_152618.3:c.323C>G