Canonical Allele Identifier: PA110090
Gene: PSEN2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000438.2:p.Met239Ile
NM_000447.3:c.717G>A

NM_000447.3:c.717G>C

NM_000447.3:c.717G>T