ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741817633
Gene: PSEN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3018022
ClinVar RCV Id:
RCV003876685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000438.2:p.Pro414Ser
CA1424856
NM_000447.3:c.1240C>T