ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098369
Gene: TGFBI
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000349.1:p.Phe540Ser
NM_000358.3:c.1619T>C