Canonical Allele Identifier: PA2829713904
Gene: PSEN1 HGNC NCBI
ClinVar RCV:
RCV000084299
ClinVar Variation:
98019
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Glu116Lys
CA225008
NM_007318.3:c.346G>A