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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:
PA2826270387
Gene: APP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18089
ClinVar RCV Id:
RCV000019715
RCV000815476
RCV002054452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191230.1:p.Val699Phe
CA127792
NM_001204301.2:c.2095G>T