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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:
PA2827008311
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229369
ClinVar RCV Id:
RCV000218870
RCV000477004
RCV000574771
RCV003153493
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Gly909Glu
CA043736
NM_001318829.2:c.2726G>A