ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA322278
Gene: TGFBR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213946
ClinVar RCV Id:
RCV000197820
RCV000660593
RCV002399733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003233.4:p.Thr516Ser
CA322276
NM_003242.6:c.1546A>T