Canonical Allele Identifier: PA241841
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 195412
ClinVar RCV Id: RCV000175979 RCV002516696 RCV003907579
ClinVar Variation Id: 965208
ClinVar RCV Id: RCV001239599
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171478.1:p.Ser327Thr
CA241840
NM_001178007.2:c.979T>A
CA1139658635
NM_001178007.2:c.978_979delinsAA