ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580577713
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.2136907383
Score
-0.2332008004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Val711Phe
CA409805580
NM_000484.4:c.2131G>T