Canonical Allele Identifier: PA2580243766
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1968587
ClinVar RCV Id: RCV002711901
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366129.1:p.Pro495_Pro496del
CA2580099134
NM_001379200.1:c.1483_1488del