ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826788609
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_001277697.2:p.Asp205Val
CA3035183
NM_001290768.2:c.614A>T