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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:
PA2826270651
Gene: APP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18102
ClinVar RCV Id:
RCV000019730
RCV000084568
RCV002513124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191231.1:p.Thr677Ala
CA127814
NM_001204302.2:c.2029A>G