Canonical Allele Identifier: PA2825177054
Gene: PSEN2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000438.2:p.Val214Leu
CA1424605
NM_000447.3:c.640G>T
CA345040391
NM_000447.3:c.640G>C