Canonical Allele Identifier: PA092204
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12143
ClinVar RCV Id: RCV000012926 RCV000082202 RCV000174408 RCV000210319 RCV000504693 RCV000787785 RCV002251900 RCV002513000 RCV003390672
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Met390Arg
CA223760
NM_024649.5:c.1169T>G