Allele Registry

Canonical Allele Identifier: PA1139668252

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001092310

ClinVar Variation:

872049

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Pro88Leu	CA390303306 NM_000021.3:c.263C>T