Canonical Allele Identifier: PA3063872441
Gene: PSEN2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000438.2:p.Asn43Lys
CA345329421
NM_000447.3:c.129C>A
CA345329422
NM_000447.3:c.129C>G