ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916046130
Gene: TBXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218621
ClinVar RCV Id:
RCV000203203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353215.1:p.Ser397Leu
CA249409
NM_001366286.2:c.1190C>T