Allele Registry

Canonical Allele Identifier: PA1139668319

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001047251

ClinVar Variation:

844411

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Ser170Tyr	CA390296095 NM_000021.3:c.509C>A