ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830094779
Gene: TBCK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392187
ClinVar RCV Id:
RCV000431902
RCV002522673
RCV004551502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149106.3:p.Asp314Val
CA3035183
NM_033115.5:c.941A>T