Allele Registry

Canonical Allele Identifier: PA2829713827

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001392197

ClinVar Variation:

1077580

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Arg50Gln	CA7256690 NM_007318.3:c.149G>A