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
ENSP00000514905.1:p.Met139Leu
CA390304931
ENST00000700269.1:c.415A>T
CA390304932
ENST00000700269.1:c.415A>C