Canonical Allele Identifier: PA2741809107
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2632484
ClinVar RCV Id: RCV003416838
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Phe386Ile
CA390305749
NM_000021.3:c.1156T>A