Canonical Allele Identifier: PA2829171422
Gene: JADE2 HGNC NCBI
ClinVar RCV:
RCV004401013
ClinVar Variation:
3112085
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001375115.1:p.Asn588Asp
CA361005404
NM_001388186.1:c.1762A>G