ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579933731
Gene: APP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000475.1:p.Gln686Pro
NM_000484.4:c.2057A>C