Canonical Allele Identifier: PA225130
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18152
ClinVar RCV Id: RCV000019782 RCV000084379 RCV002513126
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Arg278Ile
CA225129
NM_000021.3:c.833G>T