Canonical Allele Identifier: PA2829888690
Gene: BBS7 HGNC NCBI

Linked Data

ClinVar Variation Id: 199192
ClinVar RCV Id: RCV000180708 RCV002054156 RCV002517766 RCV003407670
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060660.2:p.Val289Ile
CA248271
NM_018190.4:c.865G>A