Canonical Allele Identifier: PA2830126975
Gene: TBX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2200135
ClinVar RCV Id: RCV002625317
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542378.1:p.Glu257Lys
CA10102559
NM_080647.1:c.769G>A