Canonical Allele Identifier: PA2829714276
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2923571
ClinVar RCV Id: RCV003783129
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Arg348His
CA7256914
NM_007318.3:c.1043G>A