ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239232
Gene: TBCE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193652
ClinVar RCV Id:
RCV000173771
RCV000290879
RCV002516598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001072983.1:p.Ile283Phe
CA239231
NM_001079515.3:c.847A>T