Canonical Allele Identifier: PA2827420547
Gene: BBS9 HGNC NCBI
ClinVar RCV:
RCV001208191
ClinVar Variation:
938892
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001334965.1:p.Ala28Val
CA367189398
NM_001348036.1:c.83C>T