ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830125967
Gene: TBX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542377.1:p.Glu129Lys
CA410681809
NM_080646.2:c.385G>A