Canonical Allele Identifier: PA2829171493
Gene: JADE2 HGNC NCBI
ClinVar RCV:
RCV004325335
ClinVar Variation:
2557539
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001375117.1:p.Gln683Arg
CA3414267
NM_001388188.1:c.2048A>G