Allele Registry

Canonical Allele Identifier: PA2580102160

Gene: PSEN1 HGNC NCBI

ClinVar Allele:

2293827

ClinVar RCV:

RCV002896115

RCV003777888

ClinVar Variation:

2305774

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Arg42Gly	CA7256685 NM_000021.3:c.124C>G