Allele Registry

Canonical Allele Identifier: PA225176

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084408

RCV001049005

RCV002282436

ClinVar Variation:

98110

845851

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Leu418Phe	CA225175 NM_000021.3:c.1254G>T CA390305963 NM_000021.3:c.1254G>C