This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: PA2829171416
Gene: JADE2 HGNC NCBI
ClinVar RCV:
RCV004339011
ClinVar Variation:
2589430
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001375115.1:p.Arg346Gln
CA3414033
NM_001388186.1:c.1037G>A