Canonical Allele Identifier: PA2829714009
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Trp161Cys
CA225037
NM_007318.3:c.483G>C
CA390295972
NM_007318.3:c.483G>T