ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2832441548
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.2878784019
Score
0.4344642651
Score
0.2891837623
Score
0.3124831419
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Ile712Val
CA409805574
NM_000484.4:c.2134A>G