ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827423175
Gene: BBS9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1963991
ClinVar RCV Id:
RCV002716319
RCV003916520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334970.1:p.Arg7Ser
CA4213850
NM_001348041.4:c.19C>A