ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825371814
Gene: BBS9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242248
ClinVar RCV Id:
RCV000514762
RCV001086797
RCV003151001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001028776.1:p.Leu744Gln
CA4214668
NM_001033604.2:c.2231T>A