Allele Registry

Canonical Allele Identifier: PA2829714058

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084332

ClinVar Variation:

98046

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Phe173Leu	CA225055 NM_007318.3:c.517T>C CA390296354 NM_007318.3:c.519T>A CA390296359 NM_007318.3:c.519T>G