Allele Registry

Canonical Allele Identifier: PA225047

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019788

RCV000084326

ClinVar Variation:

18158

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Ser170Phe	CA225046 NM_000021.3:c.509C>T