ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580118198
Gene: APP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2498894
ClinVar RCV Id:
RCV003223103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Ile716Phe
CA409805555
NM_000484.4:c.2146A>T