Canonical Allele Identifier: PA2573170284
Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1346683
ClinVar RCV Id: RCV002030138
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000438.2:p.His444Tyr
CA1424878
NM_000447.3:c.1330C>T