Allele Registry

Canonical Allele Identifier: PA2829714338

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019766

RCV000084411

RCV000763348

ClinVar Variation:

18136

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Ala422Pro	CA225181 NM_007318.3:c.1264G>C