ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827422450
Gene: BBS9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166740
ClinVar RCV Id:
RCV000152847
RCV000463844
RCV002467603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334968.1:p.Leu539Phe
CA179797
NM_001348039.3:c.1615C>T