Allele Registry

Canonical Allele Identifier: PA091184

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084354

RCV003482813

ClinVar Variation:

98067

2684317

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Met233Leu	CA225092 NM_000021.3:c.697A>T CA390299690 NM_000021.3:c.697A>C