ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829710391
Gene: PSEN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2408050
ClinVar RCV Id:
RCV002779222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036618.2:p.Ile419Met
CA345045121
NM_012486.3:c.1257C>G