Canonical Allele Identifier: PA2829714310
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Phe382Leu
CA390305748
NM_007318.3:c.1144T>C
CA390305752
NM_007318.3:c.1146C>A
CA390305753
NM_007318.3:c.1146C>G