Canonical Allele Identifier: PA2829714326
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18127
ClinVar RCV Id: RCV000640605 RCV000019755 RCV000084407
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Cys406Tyr
CA225174
NM_007318.3:c.1217G>A