Canonical Allele Identifier: PA2825177061
Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2202993
ClinVar RCV Id: RCV002651424
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000438.2:p.Leu238Pro
CA345040662
NM_000447.3:c.713T>C