This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000451674.1:p.Met142Leu
CA225022
ENST00000553719.5:c.424A>T
CA341490
ENST00000553719.5:c.424A>C