Canonical Allele Identifier: PA2829714316
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98106
ClinVar RCV Id: RCV000084402 RCV002513899
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Leu388Val
CA225167
NM_007318.3:c.1162C>G