Allele Registry

Canonical Allele Identifier: PA2580102240

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV002780497

ClinVar Variation:

1981356

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Met292Ile	CA390304703 NM_000021.3:c.876G>A CA390304706 NM_000021.3:c.876G>C CA390304708 NM_000021.3:c.876G>T