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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:
PA113616
Gene: APP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18090
ClinVar RCV Id:
RCV000019716
RCV000084576
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Val717Gly
CA127793
NM_000484.4:c.2150T>G