ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580123483
Gene: TGFB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1990387
ClinVar RCV Id:
RCV002800857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000651.3:p.Glu115Lys
CA406004849
NM_000660.7:c.343G>A