ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828716011
Gene: BBS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1422452
ClinVar RCV Id:
RCV001926145
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364385.1:p.Ser76Thr
CA281485809
NM_001377456.1:c.227G>C