Canonical Allele Identifier: PA2829171459
Gene: JADE2 HGNC NCBI
ClinVar RCV:
RCV004298387
ClinVar Variation:
2526067
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001375116.1:p.Arg662Trp
CA3414252
NM_001388187.1:c.1984C>T