ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830095187
Gene: TBCK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1389314
ClinVar RCV Id:
RCV001887126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149106.3:p.Ile753Val
CA3034701
NM_033115.5:c.2257A>G