ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA113573
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.0745391846
Score
0.1103862195
Score
0.3765913138
Score
-0.090334898
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019731
RCV000084565
RCV003987327
ClinVar Variation:
18103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Leu705Val
CA127815
NM_000484.4:c.2113C>G