ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830126133
Gene: TBX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542377.1:p.Val243Met
CA410683308
NM_080646.2:c.727G>A