Allele Registry

Canonical Allele Identifier: PA2829713856

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV003802480

ClinVar Variation:

2951218

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Phe82Leu	CA390303259 NM_007318.3:c.244T>C CA390303271 NM_007318.3:c.246T>A CA390303273 NM_007318.3:c.246T>G