Canonical Allele Identifier: PA2580102170
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2094397
ClinVar RCV Id: RCV003021319

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Phe118Val
CA390304689
NM_000021.3:c.352T>G