ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741934156
Gene: PSEN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036618.2:p.Cys65Tyr
CA1424433
NM_012486.3:c.194G>A