Canonical Allele Identifier: PA658673779
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448143
ClinVar RCV Id: RCV000518263
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Asn135Tyr
CA390304891
NM_000021.3:c.403A>T