Canonical Allele Identifier: PA2741983962
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2631505
ClinVar RCV Id: RCV003404628 RCV003889300
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Thr480Met
CA6123765
NM_024649.5:c.1439C>T