Canonical Allele Identifier: PA2829714237
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18132
ClinVar RCV Id: RCV000019760 RCV000019761 RCV000084381 RCV002513125
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Glu276Gly
CA127837
NM_007318.3:c.827A>G