ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827424333
Gene: BBS9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1011247
ClinVar RCV Id:
RCV001309012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334972.1:p.Leu69Pro
CA4213899
NM_001348043.3:c.206T>C