Canonical Allele Identifier: PA2829710353
Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 805253
ClinVar RCV Id: RCV000992721 RCV003769314
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_036618.2:p.Thr379Met
CA38625284
NM_012486.3:c.1136C>T