Canonical Allele Identifier: PA2828204572
Gene: TBXT HGNC NCBI

Linked Data

ClinVar Variation Id: 450603
ClinVar RCV Id: RCV000520733

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001353214.1:p.Val368Leu
CA366390492
NM_001366285.2:c.1102G>C
CA366390493
NM_001366285.2:c.1102G>T