Canonical Allele Identifier: PA916006930
Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 448151

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_036618.2:p.Leu238Phe
CA1424616
NM_012486.3:c.712C>T