ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828716074
Gene: BBS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4584
ClinVar RCV Id:
RCV000004846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364385.1:p.Gly139Val
CA253240
NM_001377456.1:c.416G>T