ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105706
Gene: BBS7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3016
ClinVar RCV Id:
RCV000003152
RCV000456825
RCV002482819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_789794.1:p.Thr211Ile
CA252534
NM_176824.3:c.632C>T