Canonical Allele Identifier: PA2829714233
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18152
ClinVar RCV Id: RCV000019782 RCV000084379 RCV002513126
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Arg274Ile
CA225129
NM_007318.3:c.821G>T