ClinGen Allele Registry
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Canonical Allele Identifier:
PA916006876
Gene: PSEN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97995
ClinVar RCV Id:
RCV000084258
RCV000172777
RCV000283560
RCV000641029
RCV001664396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036618.2:p.Arg62His
CA224946
NM_012486.3:c.185G>A