Allele Registry

Canonical Allele Identifier: PA091170

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019768

RCV000084363

ClinVar Variation:

18138

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Leu250Ser	CA225107 NM_000021.3:c.749T>C