ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825371376
Gene: BBS9
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001307864
ClinVar Variation:
1010263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001028776.1:p.Gly84Glu
CA4213908
NM_001033604.2:c.251G>A