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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:
PA2827009367
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207683
ClinVar RCV Id:
RCV001022088
RCV000915945
RCV001721232
RCV003996869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg1294Gln
CA050701
NM_001318829.2:c.3881G>A