Canonical Allele Identifier: PA2829714260
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1441953
ClinVar RCV Id: RCV001968059
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Gln302His
CA390304916
NM_007318.3:c.906A>C
CA390304918
NM_007318.3:c.906A>T