Canonical Allele Identifier: PA2829713889
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2924220
ClinVar RCV Id: RCV003785970
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Arg104Gln
CA7256709
NM_007318.3:c.311G>A