ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579933507
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.5426367171
Score
0.7459790463
Score
0.551559918
Score
0.7618115377
Score
0.6386197889
Score
0.7770851164
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Val711Gly
CA409805576
NM_000484.4:c.2132T>G