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
ENSP00000514988.1:p.Val125Leu
CA7256794
ENST00000700437.1:c.373G>T
CA390299389
ENST00000700437.1:c.373G>C