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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:
PA2827003021
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1717908
ClinVar RCV Id:
RCV002297893
RCV004047671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Leu920Met
CA394283761
NM_001318827.2:c.2758T>A