Canonical Allele Identifier: PA2580102179
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2137603
ClinVar RCV Id: RCV003062642
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Ile143Val
CA390304983
NM_000021.3:c.427A>G