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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:
PA916023189
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
639412
ClinVar RCV Id:
RCV000792194
RCV003380711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Leu56Val
CA394301789
NM_001318832.2:c.166C>G