Canonical Allele Identifier: PA915954166
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Phe386Leu
CA390305748
NM_000021.3:c.1156T>C
CA390305752
NM_000021.3:c.1158C>A
CA390305753
NM_000021.3:c.1158C>G