ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829171486
Gene: JADE2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004401013
ClinVar Variation:
3112085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001375117.1:p.Asn587Asp
CA361005404
NM_001388188.1:c.1759A>G