ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579933515
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.5236570955
Score
0.4896466031
Score
0.7166520003
Score
0.5673982824
Score
0.0967424682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Val711Ala
CA409805577
NM_000484.4:c.2132T>C