ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA281620
Gene: TGFBR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013330
ClinVar Variation:
12506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020018.1:p.Ser474Phe
CA020657
NM_001024847.2:c.1421C>T