Canonical Allele Identifier: PA2829713902
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 625849
ClinVar RCV Id: RCV000782176 RCV001196175
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Thr115Ile
CA390304710
NM_007318.3:c.344C>T