Allele Registry

Canonical Allele Identifier: PA2829714164

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084354

RCV003482813

ClinVar Variation:

98067

2684317

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Met229Leu	CA225092 NM_007318.3:c.685A>T CA390299690 NM_007318.3:c.685A>C