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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:
PA2825184322
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2564721
ClinVar RCV Id:
RCV003297153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Leu1000Ser
CA394283775
NM_000548.5:c.2999T>C