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
ENSP00000451880.2:p.Val253Leu
CA390304711
ENST00000557293.6:c.757G>C
CA390304713
ENST00000557293.6:c.757G>T