Canonical Allele Identifier: PA2580102200
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1806838
ClinVar RCV Id: RCV002474267
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Leu173Phe
CA390296202
NM_000021.3:c.519G>C
CA390296206
NM_000021.3:c.519G>T