Allele Registry

Canonical Allele Identifier: PA091155

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019774

RCV003388569

ClinVar Variation:

18144

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Gly266Ser	CA127839 NM_000021.3:c.796G>A