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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA341205
Gene: TGFB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12533
ClinVar RCV Id:
RCV000013359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000651.3:p.Cys223Arg
CA341204
NM_000660.7:c.667T>C