Allele Registry

Canonical Allele Identifier: PA091173

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019778

RCV000084375

RCV000984888

RCV001204170

RCV002051789

ClinVar Variation:

18148

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Leu271Val	CA127840 NM_000021.3:c.811C>G