Canonical Allele Identifier: PA091176
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_000012.1:p.Leu392Val
CA225167
NM_000021.3:c.1174C>G