ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3070948389
Gene: TGFBI
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000349.1:p.Pro501Ala
CA3420426
NM_000358.3:c.1501C>G