Canonical Allele Identifier: PA2828204579
Gene: TBXT HGNC NCBI

Linked Data

ClinVar Variation Id: 218621
ClinVar RCV Id: RCV000203203
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001353214.1:p.Ser397Leu
CA249409
NM_001366285.2:c.1190C>T