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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:
PA2827019491
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406054
ClinVar RCV Id:
RCV000464141
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Gln1286Arg
CA16615150
NM_001318832.2:c.3857A>G