Canonical Allele Identifier: PA2825005019
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2017451
ClinVar RCV Id: RCV002856793
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Val103_Ser104delinsGly
CA2580088693
NM_000021.3:c.308_310del