ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113540
Gene: APP
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000475.1:p.Asp694Asn
NM_000484.4:c.2080G>A