ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2832441546
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.4206458374
Score
0.4457099414
Score
0.1072573919
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Phe690Val
CA409805707
NM_000484.4:c.2068T>G