Canonical Allele Identifier: PA091164
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18145
ClinVar RCV Id: RCV001228362 RCV000019775 RCV000020084 RCV000084292
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Leu113Pro
CA224998
NM_000021.3:c.338T>C