Canonical Allele Identifier: PA2829713959
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18137
ClinVar RCV Id: RCV000019767
ClinVar Variation Id: 98029
ClinVar RCV Id: RCV000084311 RCV001854473
ClinVar Variation Id: 3233284
ClinVar RCV Id: RCV004525816
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Met142Ile
CA225023
NM_007318.3:c.426G>T
CA258121
NM_007318.3:c.426G>A
CA390305025
NM_007318.3:c.426G>C