ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110101
Gene: PSEN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009397
RCV000084260
ClinVar Variation:
8849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000438.2:p.Thr122Pro
CA224950
NM_000447.3:c.364A>C