Canonical Allele Identifier: PA658812173
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 531828
ClinVar RCV Id: RCV000638361 RCV001829791 RCV002529878
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Thr480Lys
CA6123766
NM_024649.5:c.1439C>A