Canonical Allele Identifier: PA091149
Gene: PSEN1 HGNC NCBI
ClinVar RCV:
RCV000084299
ClinVar Variation:
98019
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Glu120Lys
CA225008
NM_000021.3:c.358G>A