ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579933485
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.3967998721
Score
0.3339384191
Score
0.4794263382
Score
-0.0126462889
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Ile712Met
CA409805569
NM_000484.4:c.2136A>G