ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825177040
Gene: PSEN2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001423308
RCV002246384
ClinVar Variation:
1100640
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000438.2:p.His169Asn
CA1424557
NM_000447.3:c.505C>A