Canonical Allele Identifier: PA2827425468
Gene: BBS9 HGNC NCBI
ClinVar RCV:
RCV000256397
ClinVar Variation:
265988
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001334974.1:p.Val140Ala
CA10588927
NM_001348045.3:c.419T>C