ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA225517
Gene: PSEN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8851
ClinVar RCV Id:
RCV000009399
RCV000084579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000438.2:p.Thr122Arg
CA225516
NM_000447.3:c.365C>G