Canonical Allele Identifier: PA2829714280
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448142
ClinVar RCV Id: RCV000518371 RCV001314550 RCV003884591
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Arg354Pro
CA262618753
NM_007318.3:c.1061G>C