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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:
PA2828094552
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
639390
ClinVar RCV Id:
RCV000792166
RCV004001563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Gln1459Arg
CA394304325
NM_001363528.2:c.4376A>G