Canonical Allele Identifier: PA645385450
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 424852
ClinVar RCV Id: RCV000487478
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Thr55Asn
CA16621540
NM_004004.6:c.164C>A