Allele Registry

Canonical Allele Identifier: PA2580102170

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV003021319

ClinVar Variation:

2094397

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