Canonical Allele Identifier: PA2829713903
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18135
ClinVar RCV Id: RCV000019765 RCV000084300
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Glu116Asp
CA225009
NM_007318.3:c.348A>T
CA390304722
NM_007318.3:c.348A>C