Allele Registry

Canonical Allele Identifier: PA1139668424

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001058511

ClinVar Variation:

853657

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Thr440Asn	CA390306095 NM_000021.3:c.1319C>A