Canonical Allele Identifier: PA2741856885
Gene: JADE2 HGNC NCBI
ClinVar RCV:
RCV004298387
ClinVar Variation:
2526067
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001276914.1:p.Arg678Trp
CA3414252
NM_001289985.2:c.2032C>T