Canonical Allele Identifier: PA2829713990
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2573620
ClinVar RCV Id: RCV003317956
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Ile158Thr
CA390295893
NM_007318.3:c.473T>C