ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658682035
Gene: PSEN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448151
ClinVar RCV Id:
RCV002490889
RCV001755770
RCV001857923
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000438.2:p.Leu238Phe
CA1424616
NM_000447.3:c.712C>T