ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916006918
Gene: PSEN2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000861602
RCV001664491
RCV002487885
ClinVar Variation:
695724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036618.2:p.Met174Val
CA1424559
NM_012486.3:c.520A>G