ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830390576
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_852259.1:p.Gly125Arg
CA325430
NM_181486.4:c.373G>C