ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098247
Gene: TGFBI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7866
ClinVar RCV Id:
RCV000008315
RCV002227439
RCV002288474
RCV003329228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000349.1:p.Arg555Trp
CA119119
NM_000358.3:c.1663C>T