Canonical Allele Identifier: PA091136
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18136
ClinVar RCV Id: RCV000763348 RCV000019766 RCV000084411
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Ala426Pro
CA225181
NM_000021.3:c.1276G>C