Canonical Allele Identifier: PA2829888492
Gene: BBS7 HGNC NCBI

Linked Data

ClinVar Variation Id: 347489
ClinVar RCV Id: RCV000340451 RCV001453261 RCV003922526
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060660.2:p.Ile4Thr
CA3064641
NM_018190.4:c.11T>C