ClinGen Allele Registry
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Canonical Allele Identifier:
PA645500814
Gene: BBS9
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
240082
ClinVar RCV:
RCV000514762
RCV001086797
RCV003151001
ClinVar Variation:
242248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_940820.1:p.Leu779Gln
CA4214668
NM_198428.3:c.2336T>A