ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741934186
Gene: PSEN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2727425
ClinVar RCV Id:
RCV003511249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036618.2:p.Gly189Ala
CA1424571
NM_012486.3:c.566G>C