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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:
PA2830508958
Gene: APP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2047418
ClinVar RCV Id:
RCV002926844
RCV003994471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_958817.1:p.Gly582Arg