Canonical Allele Identifier: PA3081664272
Gene: PSEN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Asp40Glu
CA390302543
NM_000021.3:c.120C>A
CA390302544
NM_000021.3:c.120C>G