Allele Registry

Canonical Allele Identifier: PA2829713889

Gene: PSEN1 HGNC NCBI

ClinVar Allele:

3082519

ClinVar RCV:

RCV003785970

ClinVar Variation:

2924220

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Arg104Gln	CA7256709 NM_007318.3:c.311G>A