Allele Registry

Canonical Allele Identifier: PA091179

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084305

RCV001290408

ClinVar Variation:

98023

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Met139Thr	CA225016 NM_000021.3:c.416T>C