ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830390595
Gene: TBX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852259.1:p.Leu135Arg
CA16044038
NM_181486.4:c.404T>G