Canonical Allele Identifier: PA2829713816
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98004
ClinVar RCV Id: RCV000084280 RCV000172094 RCV000640608 RCV001120058 RCV001120057
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Arg31Gln
CA224981
NM_007318.3:c.92G>A