Canonical Allele Identifier: PA2829714274
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 965986
ClinVar RCV Id: RCV001240561
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Asp341Gly
CA262618707
NM_007318.3:c.1022A>G