Canonical Allele Identifier: PA915953927
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 807473
ClinVar RCV Id: RCV000995615 RCV003769343
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Gly206Asp
CA390299366
NM_000021.3:c.617G>A