Canonical Allele Identifier: PA2741809070
Gene: PSEN1 HGNC NCBI
ClinVar Allele:
3082519
ClinVar RCV:
RCV003785970
ClinVar Variation:
2924220
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Arg108Gln
CA7256709
NM_000021.3:c.323G>A