ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828716186
Gene: BBS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
260922
ClinVar RCV:
RCV000256466
ClinVar Variation:
266083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364385.1:p.Val269Gly
CA10588977
NM_001377456.1:c.806T>G