Canonical Allele Identifier: PA645375837
Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 295987
ClinVar RCV Id: RCV000262295 RCV000317441 RCV002522116
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000438.2:p.Val13Ala
CA10609253
NM_000447.3:c.38T>C