Canonical Allele Identifier: PA225112
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98076
ClinVar RCV Id: RCV000084366
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Val261Phe
CA225111
NM_000021.3:c.781G>T