Allele Registry

Canonical Allele Identifier: PA2829714300

Gene: PSEN1 HGNC NCBI

ClinVar Variation Id: 120170

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Leu377Phe	CA150766 NM_007318.3:c.1129C>T