Allele Registry

Canonical Allele Identifier: PA3057549851

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV005221339

RCV005241143

ClinVar Variation:

3759252

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Met135Lys	CA390304935 NM_007318.3:c.404T>A