ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109911
Gene: TGFBR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12506
ClinVar RCV Id:
RCV000013330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003233.4:p.Ser449Phe
CA020657
NM_003242.6:c.1346C>T