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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:
PA2827015211
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41740
ClinVar RCV Id:
RCV000034657
RCV000054871
RCV000566784
RCV000606975
RCV000768352
RCV001082570
RCV004534723
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg1165Trp
CA020096
NM_001318831.2:c.3493C>T