Canonical Allele Identifier: PA2580102199
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1709203
ClinVar RCV Id: RCV002289018 RCV003097769
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Ser170del
CA390296070
NM_000021.3:c.506C>A
CA390296072
NM_000021.3:c.506C>G
CA2580613716
NM_000021.3:c.507_509del