ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA127844
Gene: PSEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18159
ClinVar RCV Id:
RCV000019789
RCV001377214
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000012.1:p.Gly217Arg
CA127843
NM_000021.3:c.649G>C