ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020600
Gene: TGFBR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000198521
ClinVar Variation:
213893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293139.1:p.Cys478Arg
CA323032
NM_001306210.2:c.1432T>C