Canonical Allele Identifier: PA2829714340
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98113
ClinVar RCV Id: RCV000084412 RCV002288582
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Ala427Val
CA225182
NM_007318.3:c.1280C>T