ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826788842
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_001277697.2:p.Ile644Val
CA3034701
NM_001290768.2:c.1930A>G