Canonical Allele Identifier: PA092097
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370228
ClinVar RCV Id: RCV000411434 RCV000504813 RCV001074216 RCV001092069 RCV001387773 RCV003922662
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Arg160Gln
CA6123351
NM_024649.5:c.479G>A