ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826927097
Gene: JADE2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004339011
ClinVar Variation:
2589430
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295072.1:p.Arg346Gln
CA3414033
NM_001308143.2:c.1037G>A