ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579934047
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.0185893011
Score
-0.9701967469
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Glu693Val
CA409805687
NM_000484.4:c.2078A>T