Canonical Allele Identifier: PA2827425215
Gene: BBS9 HGNC NCBI

Linked Data

ClinVar Variation Id: 166740
ClinVar RCV Id: RCV000152847 RCV000463844 RCV002467603
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001334973.1:p.Leu508Phe
CA179797
NM_001348044.3:c.1522C>T