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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:
PA2828420874
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1512761
ClinVar RCV Id:
RCV002023196
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Phe1484Ser
CA394304382
NM_001370405.1:c.4451T>C