Canonical Allele Identifier: PA2829888634
Gene: BBS7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3016
ClinVar RCV Id: RCV000003152 RCV000456825 RCV002482819
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060660.2:p.Thr211Ile
CA252534
NM_018190.4:c.632C>T