ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658756948
Gene: TBX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000183.2:p.Val412Ile
CA6809375
NM_000192.3:c.1234G>A