Canonical Allele Identifier: PA2741879683
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2883128
ClinVar RCV Id: RCV003619459
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366129.1:p.Tyr499Asp
CA410685762
NM_001379200.1:c.1495T>G