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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:
PA2828994349
Gene: STAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9045
ClinVar RCV Id:
RCV000009612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371813.1:p.Leu602Pro
CA120076
NM_001384884.1:c.1805T>C