Canonical Allele Identifier: PA2829713896
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98016

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Thr112Ile
CA225003
NM_007318.3:c.335C>T