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: PSEN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000486498.1:p.Met185Leu
CA345038655
ENST00000626989.2:c.553A>C
CA345038661
ENST00000626989.2:c.553A>T