ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828716010
Gene: BBS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4569
ClinVar RCV Id:
RCV000004831
RCV001002877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364385.1:p.Val75Gly
CA253233
NM_001377456.1:c.224T>G