ClinGen Allele Registry
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Canonical Allele Identifier:
PA916006873
Gene: PSEN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000687794
RCV001584558
RCV002485611
RCV003420219
ClinVar Variation:
567646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036618.2:p.Arg62Cys
CA1424432
NM_012486.3:c.184C>T