Canonical Allele Identifier: PA2829714248
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18126

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Leu282Val
CA225141
NM_007318.3:c.844C>G