Allele Registry

Canonical Allele Identifier: PA091136

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019766

RCV000084411

RCV000763348

ClinVar Variation:

18136

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Ala426Pro	CA225181 NM_000021.3:c.1276G>C