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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:
PA2828960819
Gene: APP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18099
ClinVar RCV Id:
RCV000019727
RCV000084562
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372182.1:p.Glu637Lys
CA127802
NM_001385253.1:c.1909G>A