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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:
PA2825571963
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
951243
ClinVar RCV Id:
RCV001223108
RCV002379842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Leu45Pro
CA394301801
NM_001114382.3:c.134T>C