Canonical Allele Identifier: PA2826132196
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2171438
ClinVar RCV Id: RCV003086915 RCV003404088 RCV003095766
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171478.1:p.Cys304Tyr
CA3069348
NM_001178007.2:c.911G>A