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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:
PA2828420456
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
579558
ClinVar RCV Id:
RCV000702874
RCV002332493
RCV002477621
RCV003313136
RCV003465625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Ser1368Asn
CA394300256
NM_001370405.1:c.4103G>A