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
ENSP00000377712.3:p.Asp40Glu
CA390302543
ENST00000394157.7:c.120C>A
CA390302544
ENST00000394157.7:c.120C>G