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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:
PA915986761
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237724
ClinVar RCV Id:
RCV000232948
RCV001085260
RCV002255322
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Lys261Arg
CA038935
NM_001162426.2:c.782A>G