Allele Registry

Canonical Allele Identifier: PA225178

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084409

ClinVar Variation:

98111

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Leu420Arg	CA225177 NM_000021.3:c.1259T>G