Allele Registry

Canonical Allele Identifier: PA127842

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019783

RCV000084284

ClinVar Variation:

18153

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Leu85Pro	CA127841 NM_000021.3:c.254T>C