Allele Registry

Canonical Allele Identifier: PA224996

Gene: PSEN1 HGNC NCBI

ClinVar Allele:

103903

ClinVar RCV:

RCV000084290

ClinVar Variation:

98011

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Phe105Ile	CA224995 NM_000021.3:c.313T>A