Canonical Allele Identifier: PA916046128
Gene: TBXT HGNC NCBI

Linked Data

ClinVar Variation Id: 450603
ClinVar RCV Id: RCV000520733
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001353215.1:p.Val368Leu
CA366390492
NM_001366286.2:c.1102G>C
CA366390493
NM_001366286.2:c.1102G>T