ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2832441567
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.2537406481
Score
-0.1498361404
Score
-0.3954592973
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Glu693Ala
CA409805688
NM_000484.4:c.2078A>C