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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:
PA2825436149
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406039
ClinVar RCV Id:
RCV000457153
RCV000568724
RCV000765267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Pro672Leu
CA16615063
NM_001077183.3:c.2015C>T