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
ENSP00000452477.2:p.Val121Leu
CA390304776
ENST00000553599.6:c.361G>C
CA390304778
ENST00000553599.6:c.361G>T