Allele Registry

Canonical Allele Identifier: PA2829713886

Gene: PSEN1 HGNC NCBI

ClinVar Allele:

103903

ClinVar RCV:

RCV000084290

ClinVar Variation:

98011

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Phe101Ile	CA224995 NM_007318.3:c.301T>A