Canonical Allele Identifier: PA2499226953
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1016327
ClinVar RCV Id: RCV001315317
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Val161Ile
CA390295845
NM_000021.3:c.481G>A