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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:
PA2825437904
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230769
ClinVar RCV Id:
RCV000220849
RCV001853522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Pro1221del
CA10579895
NM_001077183.3:c.3662_3664del