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
ENSP00000514939.1:p.Leu90Phe
CA390296202
ENST00000700312.1:c.270G>C
CA390296206
ENST00000700312.1:c.270G>T