ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091190
Gene: PSEN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
980493
ClinVar RCV:
RCV001281064
ClinVar Variation:
992565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000012.1:p.Pro267Thr
CA390301958
NM_000021.3:c.799C>A