Canonical Allele Identifier: PA2829714121
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98051
ClinVar RCV Id: RCV000084338
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Gly202Val
CA225067
NM_007318.3:c.605G>T