Canonical Allele Identifier: PA2828063721
Gene: BBS9 HGNC NCBI

Linked Data

ClinVar Variation Id: 263119
ClinVar RCV Id: RCV000247367 RCV000368161 RCV000709635 RCV001095136 RCV001706406
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349608.1:p.Pro516Thr
CA4214392
NM_001362679.1:c.1546C>A