Canonical Allele Identifier: PA2829714212
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448146
ClinVar RCV Id: RCV000516919 RCV003480665
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Pro263Ala
CA390301959
NM_007318.3:c.787C>G