ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098204
Gene: TGFBI
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008318
RCV001543464
RCV001807721
ClinVar Variation:
7869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000349.1:p.Arg124His
CA119122
NM_000358.3:c.371G>A