ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825808591
Gene: APP
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000019714
RCV000020308
RCV000084575
RCV002496421
RCV003993747
ClinVar Variation:
18088
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129488.1:p.Val693Ile
CA127791
NM_001136016.3:c.2077G>A