Allele Registry

Canonical Allele Identifier: PA225006

Gene: PSEN1 HGNC NCBI

ClinVar Allele:

103909

ClinVar RCV:

RCV000084297

RCV002514494

ClinVar Variation:

98017

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Pro117Ser	CA225005 NM_000021.3:c.349C>T