ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645484476
Gene: TBX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000183.2:p.Arg237Pro
CA16042869
NM_000192.3:c.710G>C