Canonical Allele Identifier: PA2829171384
Gene: JADE2 HGNC NCBI
ClinVar RCV:
RCV004339011
ClinVar Variation:
2589430
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001375114.1:p.Arg346Gln
CA3414033
NM_001388185.1:c.1037G>A