ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741809070
Gene: PSEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2924220
ClinVar RCV Id:
RCV003785970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000012.1:p.Arg108Gln
CA7256709
NM_000021.3:c.323G>A