ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA281618
Gene: TGFBR2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000013329
ClinVar Variation:
12505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020018.1:p.Leu333Pro
CA020791
NM_001024847.2:c.998T>C