ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827422438
Gene: BBS9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286735
ClinVar RCV Id:
RCV000392986
RCV001242482
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334968.1:p.Ile514Val
CA4214544
NM_001348039.3:c.1540A>G