ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579933662
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.3471366898
Score
0.4293312555
Score
0.2270427533
Score
-0.330827342
Score
-0.0502734757
Score
0.3765766855
Score
0.2755544642
Score
0.1331475533
Score
-0.3828588112
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Ala713Gly
CA409805565
NM_000484.4:c.2138C>G