ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579986253
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.6988846318
Score
-0.6455504923
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Leu688Trp
CA409806210
NM_000484.4:c.2063T>G