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
ENSP00000377719.1:p.Met229Leu
CA225092
ENST00000394164.5:c.685A>T
CA390299690
ENST00000394164.5:c.685A>C