Canonical Allele Identifier: PA2829714030
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1709203
ClinVar RCV Id: RCV002289018 RCV003097769
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Ser166del
CA390296070
NM_007318.3:c.494C>A
CA390296072
NM_007318.3:c.494C>G
CA2580613716
NM_007318.3:c.495_497del