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
ENSP00000450652.1:p.Leu50Phe
CA390302602
ENST00000555254.5:c.150A>C
CA390302603
ENST00000555254.5:c.150A>T