ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580546292
Gene: TBX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1746818
ClinVar RCV Id:
RCV002346778
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852259.1:p.Ser40Trp
CA244132190
NM_181486.4:c.119C>G