Allele Registry

Canonical Allele Identifier: PA091166

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084327

RCV002514495

ClinVar Variation:

98042

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Leu171Pro	CA225048 NM_000021.3:c.512T>C