ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825076575
Gene: TBX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000183.2:p.Trp121Leu
CA386862446
NM_000192.3:c.362G>T