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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:
PA2825818939
Gene: APP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1342870
ClinVar RCV Id:
RCV001842233
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129603.1:p.Thr609Pro
CA409805542
NM_001136131.2:c.1825A>C