Allele Registry

Canonical Allele Identifier: PA2829713955

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019751

RCV000084310

RCV001248367

RCV002247483

RCV003105774

ClinVar Variation:

18123

98028

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Met142Leu	CA225022 NM_007318.3:c.424A>T CA341490 NM_007318.3:c.424A>C