Canonical Allele Identifier: PA127844
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18159
ClinVar RCV Id: RCV000019789 RCV001377214
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Gly217Arg
CA127843
NM_000021.3:c.649G>C