Allele Registry

Canonical Allele Identifier: PA225109

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000020087

RCV000084364

ClinVar Variation:

21029

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Tyr256Ser	CA225108 NM_000021.3:c.767A>C