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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:
PA2825808517
Gene: APP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18098
ClinVar RCV Id:
RCV000019725
RCV000020307
RCV000019726
RCV000084563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129488.1:p.Glu669Gly
CA127801
NM_001136016.3:c.2006A>G