ClinGen Allele Registry
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Canonical Allele Identifier:
PA113551
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.2695128583
Score
0.6996110622
Score
-0.0610918421
Score
0.2703248397
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019725
RCV000019726
RCV000020307
RCV000084563
ClinVar Variation:
18098
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Glu693Gly
CA127801
NM_000484.4:c.2078A>G