ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139723941
Gene: PSEN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001248445
ClinVar Variation:
972418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036618.2:p.Lys161Arg
CA1424529
NM_012486.3:c.482A>G