Canonical Allele Identifier: PA2827423225
Gene: BBS9 HGNC NCBI
ClinVar RCV:
RCV001945030
ClinVar Variation:
1413469
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001334970.1:p.Val87Ile
CA367190662
NM_001348041.4:c.259G>A