Canonical Allele Identifier: PA2826520758
Gene: TBXT HGNC NCBI

Linked Data

ClinVar Variation Id: 450603
ClinVar RCV Id: RCV000520733

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001257413.1:p.Val309Leu
CA366390492
NM_001270484.2:c.925G>C
CA366390493
NM_001270484.2:c.925G>T