ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579933942
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.777254056
Score
1.106853803
Score
0.7903457579
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Val689Ala
CA409805712
NM_000484.4:c.2066T>C