ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139685409
Gene: TGFBI
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000349.1:p.Arg548Gln
CA3420475
NM_000358.3:c.1643G>A