Canonical Allele Identifier: PA225006
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98017
ClinVar RCV Id: RCV000084297 RCV002514494
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Pro117Ser
CA225005
NM_000021.3:c.349C>T