Canonical Allele Identifier: PA225183
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98113
ClinVar RCV Id: RCV000084412 RCV002288582
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Ala431Val
CA225182
NM_000021.3:c.1292C>T