ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830161068
Gene: TBX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542448.1:p.Arg187Pro
CA16042869
NM_080717.4:c.560G>C