ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139669468
Gene: TGFBR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
932726
ClinVar RCV Id:
RCV001200661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020018.1:p.Ala439Val
CA351808829
NM_001024847.2:c.1316C>T