Allele Registry

Canonical Allele Identifier: PA2829713957

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019757

ClinVar Variation:

18129

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Met142Val	CA258120 NM_007318.3:c.424A>G