ClinGen Allele Registry
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Canonical Allele Identifier:
PA645429810
Gene: TGFBR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252506
ClinVar RCV Id:
RCV000238729
RCV001296215
RCV001547011
RCV002487107
RCV003998942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020018.1:p.Leu348Val
CA050696
NM_001024847.2:c.1042C>G