ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499276953
Gene: PSEN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036618.2:p.His169Asn
CA1424557
NM_012486.3:c.505C>A