Canonical Allele Identifier: PA224994
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98010
ClinVar RCV Id: RCV000084289
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Val97Leu
CA224993
NM_000021.3:c.289G>T
CA390303443
NM_000021.3:c.289G>C