Canonical Allele Identifier: PA225171
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98107
ClinVar RCV Id: RCV000084404 RCV002513900
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Gly394Val
CA225170
NM_000021.3:c.1181G>T