ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579933505
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.3035416692
Score
1.2892346022
Score
1.3816311099
Score
-0.1124234918
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Val711Ile
CA409805579
NM_000484.4:c.2131G>A