Canonical Allele Identifier: PA2829714358
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 425049
ClinVar RCV Id: RCV000488276
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Val449Ile
CA16621661
NM_007318.3:c.1345G>A