ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827425971
Gene: BBS9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265988
ClinVar RCV Id:
RCV000256397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334975.1:p.Val140Ala
CA10588927
NM_001348046.3:c.419T>C