Canonical Allele Identifier: PA2825371797
Gene: BBS9 HGNC NCBI

Linked Data

ClinVar Variation Id: 383539
ClinVar RCV Id: RCV000417647 RCV001083313 RCV001165275 RCV002521642 RCV003912685
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001028776.1:p.Glu718Val
CA4214639
NM_001033604.2:c.2153A>T