ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579933599
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.8435336696
Score
0.7014078336
Score
1.0353402168
Score
0.7555657867
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Phe691Cys
CA409805697
NM_000484.4:c.2072T>G