Canonical Allele Identifier: PA3081543174
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Phe118Leu
CA390304687
NM_000021.3:c.352T>C
CA390304698
NM_000021.3:c.354C>A
CA390304700
NM_000021.3:c.354C>G