ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826132250
Gene: BBS12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1036725
ClinVar RCV Id:
RCV001339773
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171478.1:p.Asp383Gly
CA358224498
NM_001178007.2:c.1148A>G