ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828716059
Gene: BBS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364385.1:p.Ile123Val
CA8066062
NM_001377456.1:c.367A>G