Canonical Allele Identifier: PA2829888713
Gene: BBS7 HGNC NCBI

Linked Data

ClinVar Variation Id: 217436
ClinVar RCV Id: RCV000207525
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060660.2:p.Leu317Val
CA351663
NM_018190.4:c.949C>G