ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139677655
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.2261836759
Score
0.3627959425
Score
0.1115396216
Score
0.7048904172
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001200266
ClinVar Variation:
932452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Leu688Val
CA409806217
NM_000484.4:c.2062T>G