Canonical Allele Identifier: PA2829713899
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_015557.2:p.Pro113Ser
CA225005
NM_007318.3:c.337C>T