ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573096618
Gene: BBS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
266083
ClinVar RCV Id:
RCV000256466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114091.4:p.Val269Gly
CA10588977
NM_031885.5:c.806T>G