ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827420586
Gene: BBS9
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001945030
ClinVar Variation:
1413469
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334965.1:p.Val87Ile
CA367190662
NM_001348036.1:c.259G>A