Canonical Allele Identifier: PA2829714125
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 657317
ClinVar RCV Id: RCV000813898
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Val204Leu
CA7256794
NM_007318.3:c.610G>T
CA390299389
NM_007318.3:c.610G>C