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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:
PA2825576354
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207753
ClinVar RCV Id:
RCV000491452
RCV000713933
RCV001087398
RCV003996896
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Gly1385Val
CA050682
NM_001114382.3:c.4154G>T