ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825808595
Gene: APP
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000019715
RCV000815476
RCV002054452
ClinVar Variation:
18089
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129488.1:p.Val693Phe
CA127792
NM_001136016.3:c.2077G>T