Canonical Allele Identifier: PA2829714352
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 995216

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Ile433Val
CA7256970
NM_007318.3:c.1297A>G