Canonical Allele Identifier: PA2829171429
Gene: JADE2 HGNC NCBI
ClinVar RCV:
RCV004325335
ClinVar Variation:
2557539
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001375115.1:p.Gln684Arg
CA3414267
NM_001388186.1:c.2051A>G