Canonical Allele Identifier: PA237504
Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 191771
ClinVar RCV Id: RCV000172099 RCV000763832 RCV002516567
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000438.2:p.Pro69Ala
CA237503
NM_000447.3:c.205C>G