Canonical Allele Identifier: PA092184
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12147
ClinVar RCV Id: RCV000012930 RCV001075155 RCV001055313 RCV001753415
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Leu518Pro
CA256230
NM_024649.5:c.1553T>C