Canonical Allele Identifier: PA2829713922
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98021
ClinVar RCV Id: RCV000084302 RCV001854472
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Asn131Asp
CA225012
NM_007318.3:c.391A>G