Allele Registry

Canonical Allele Identifier: PA2829714253

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV002780497

ClinVar Variation:

1981356

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Met288Ile	CA390304703 NM_007318.3:c.864G>A CA390304706 NM_007318.3:c.864G>C CA390304708 NM_007318.3:c.864G>T