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
ENSP00000513477.1:p.Val203Leu
CA390299372
ENST00000697912.1:c.607G>C
CA390299373
ENST00000697912.1:c.607G>T