ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA258119
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.1167764042
Score
-0.2048694783
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019734
ClinVar Variation:
18106
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Ala673Val
CA258118
NM_000484.4:c.2018C>T