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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:
PA2827007534
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535909
ClinVar RCV Id:
RCV000644136
RCV002422323
RCV002221568
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Pro623Ala
CA394274478
NM_001318829.2:c.1867C>G