Canonical Allele Identifier: PA2829713900
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2094397
ClinVar RCV Id: RCV003021319
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Phe114Val
CA390304689
NM_007318.3:c.340T>G