ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916057838
Gene: TBX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213816
ClinVar RCV Id:
RCV000200855
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542448.1:p.Gly75Arg
CA325430
NM_080717.4:c.223G>C