Allele Registry

Canonical Allele Identifier: PA915953927

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000995615

RCV003769343

ClinVar Variation:

807473

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Gly206Asp	CA390299366 NM_000021.3:c.617G>A