Allele Registry

Canonical Allele Identifier: PA225056

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084332

ClinVar Variation:

98046

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Phe177Leu	CA225055 NM_000021.3:c.529T>C CA390296354 NM_000021.3:c.531T>A CA390296359 NM_000021.3:c.531T>G