ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830094962
Gene: TBCK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
809651
ClinVar RCV Id:
RCV000998255
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149106.3:p.Cys506Arg
CA357821972
NM_033115.5:c.1516T>C