ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825076585
Gene: TBX5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000195513
ClinVar Variation:
213826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000183.2:p.Lys126_Arg134del
CA319857
NM_000192.3:c.376_402del