Canonical Allele Identifier: PA2580102164
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Met84Ile
CA390303232
NM_000021.3:c.252G>A
CA390303235
NM_000021.3:c.252G>C
CA390303237
NM_000021.3:c.252G>T