Canonical Allele Identifier: PA2829713929
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98024
ClinVar RCV Id: RCV000084306
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Met135Ile
CA225017
NM_007318.3:c.405G>A
CA390304940
NM_007318.3:c.405G>C
CA390304942
NM_007318.3:c.405G>T