ClinGen Allele Registry
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Canonical Allele Identifier:
PA130093
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.0481047675
Score
-0.0517085576
Linked Data - NCBI & NCI
ClinVar Allele:
45806
ClinVar RCV:
RCV000030774
RCV000084558
RCV002513276
ClinVar Variation:
37145
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Ala673Thr
CA130092
NM_000484.4:c.2017G>A