ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579986202
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.6004851599
Score
0.520119768
Score
0.4739160229
Score
0.6289615079
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Phe691Val
CA409805700
NM_000484.4:c.2071T>G