Canonical Allele Identifier: PA2580102239
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2042091
ClinVar RCV Id: RCV002917221

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Thr291Ala
CA390304682
NM_000021.3:c.871A>G