Canonical Allele Identifier: PA3081785957
Gene: PSEN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Lys109Asn
CA390303642
NM_000021.3:c.327G>C
CA390303644
NM_000021.3:c.327G>T