Allele Registry

Canonical Allele Identifier: PA2829714206

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019774

RCV003388569

ClinVar Variation:

18144

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Gly262Ser	CA127839 NM_007318.3:c.784G>A