ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579933652
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.0351643888
Score
1.0476901105
Score
0.7646229925
Score
1.0183784808
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Val689Glu
CA409805711
NM_000484.4:c.2066T>A