ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830390471
Gene: TBX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1777885
ClinVar RCV Id:
RCV002414531
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852259.1:p.Val56Glu
CA386863261
NM_181486.4:c.167T>A