ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645484447
Gene: TBX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000183.2:p.Gln224Ter
NM_000192.3:c.670C>T