Allele Registry

Canonical Allele Identifier: PA2829714209

Gene: PSEN1 HGNC NCBI

ClinVar Allele:

980493

ClinVar RCV:

RCV001281064

ClinVar Variation:

992565

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Pro263Thr	CA390301958 NM_007318.3:c.787C>A