Canonical Allele Identifier: PA2826132241
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 1511663
ClinVar RCV Id: RCV002016876
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171478.1:p.Arg368Cys
CA3069374
NM_001178007.2:c.1102C>T