ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580243530
Gene: TBX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366129.1:p.Cys17Arg
CA2580099091
NM_001379200.1:c.49T>C