ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139765761
Gene: TBX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852259.1:p.Val257Met
CA6809502
NM_181486.4:c.769G>A