ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829710418
Gene: PSEN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8847
ClinVar RCV Id:
RCV000009395
RCV000084269
RCV000172102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036618.2:p.Asp438Ala
CA224963
NM_012486.3:c.1313A>C