Allele Registry

Canonical Allele Identifier: PA091199

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084320

ClinVar Variation:

98036

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Trp165Cys	CA225037 NM_000021.3:c.495G>C CA390295972 NM_000021.3:c.495G>T