Allele Registry

Canonical Allele Identifier: PA2499226951

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV001392197

ClinVar Variation:

1077580

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Arg54Gln	CA7256690 NM_000021.3:c.161G>A