ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829803681
Gene: JADE2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004298387
ClinVar Variation:
2526067
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056103.4:p.Arg618Trp
CA3414252
NM_015288.6:c.1852C>T