ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579933594
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.2157123897
Score
0.280342113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Phe691Ile
CA409805702
NM_000484.4:c.2071T>A