Canonical Allele Identifier: PA091190
Gene: PSEN1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Pro267Thr
CA390301958
NM_000021.3:c.799C>A