ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573076014
Gene: TBX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001815165
ClinVar Variation:
7563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366129.1:p.Phe157Tyr
CA118883
NM_001379200.1:c.470T>A