Canonical Allele Identifier: PA2829714130
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98052
ClinVar RCV Id: RCV000084339
ClinVar Variation Id: 1184946
ClinVar RCV Id: RCV001543544
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Gly205Arg
CA225069
NM_007318.3:c.613G>A
CA390299401
NM_007318.3:c.613G>C