Allele Registry

Canonical Allele Identifier: PA225188

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084415

RCV002470762

ClinVar Variation:

98116

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Ile439Val	CA225187 NM_000021.3:c.1315A>G