ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579933650
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.1628459848
Score
1.2495824648
Score
1.2351434293
Score
1.2260304222
Score
1.111966483
Score
0.9775352637
Score
1.2336824239
Score
0.918270049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Val689Gly
CA409805710
NM_000484.4:c.2066T>G