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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:
PA2827014214
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49241
ClinVar RCV Id:
RCV000042500
RCV000201071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg788Pro
CA018497
NM_001318831.2:c.2363G>C