Allele Registry

Canonical Allele Identifier: PA2741809060

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV003802480

ClinVar Variation:

2951218

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Phe86Leu	CA390303259 NM_000021.3:c.256T>C CA390303271 NM_000021.3:c.258T>A CA390303273 NM_000021.3:c.258T>G