Canonical Allele Identifier: PA2830126140
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1967986
ClinVar RCV Id: RCV002727169
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542377.1:p.Arg249Cys
CA410683349
NM_080646.2:c.745C>T