ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113542
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.3040760195
Score
0.0260410235
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019713
RCV001386879
RCV002272024
ClinVar Variation:
18087
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Glu693Gln
CA127790
NM_000484.4:c.2077G>C