ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA233524
Gene: BBS7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166739
ClinVar RCV Id:
RCV000152846
RCV000283074
RCV001094847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_789794.1:p.Thr94Ser
CA233523
NM_176824.3:c.280A>T