Canonical Allele Identifier: PA658831344
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 550847
ClinVar RCV Id: RCV000665713 RCV001855444
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Asp179His
CA387460951
NM_004004.6:c.535G>C