ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579986188
Gene: APP
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.3756088964
Score
0.1680812174
Score
0.2972931762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000475.1:p.Ala692Ser
CA409805692
NM_000484.4:c.2074G>T