Allele Registry

Canonical Allele Identifier: PA225039

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084321

ClinVar Variation:

98037

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Leu166del	CA225038 NM_000021.3:c.496_498del