Canonical Allele Identifier: PA2830126108
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1806694
ClinVar RCV Id: RCV002474123
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542377.1:p.Thr219Ser
CA410683129
NM_080646.2:c.655A>T
CA410683133
NM_080646.2:c.656C>G