Canonical Allele Identifier: PA2830126093
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2630029
ClinVar RCV Id: RCV003391318
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542377.1:p.Met207Leu
CA410682978
NM_080646.2:c.619A>C
CA410682981
NM_080646.2:c.619A>T