ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741855884
Gene: TGFBR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2683055
ClinVar RCV Id:
RCV003481922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293139.1:p.Arg417Gly
CA374233135
NM_001306210.2:c.1249C>G