Allele Registry

Canonical Allele Identifier: PA2829713823

Gene: PSEN1 HGNC NCBI

ClinVar Allele:

2293827

ClinVar RCV:

RCV002896115

RCV003777888

ClinVar Variation:

2305774

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Arg38Gly	CA7256685 NM_007318.3:c.112C>G