ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA113505
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.7903405199
Score
0.8010546304
Score
0.7174003252
Linked Data - NCBI & NCI
ClinVar Allele:
33130
ClinVar RCV:
RCV000019717
RCV000019718
RCV000020306
RCV000084561
ClinVar Variation:
18091
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Ala692Gly
CA127794
NM_000484.4:c.2075C>G