Canonical Allele Identifier: PA237506
Gene: PSEN2 HGNC NCBI
ClinVar RCV:
RCV000172100
ClinVar Variation:
191772
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000438.2:p.Ala237Val
CA237505
NM_000447.3:c.710C>T