Canonical Allele Identifier: PA134980
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44756
ClinVar RCV Id: RCV000037859 RCV000505507 RCV000590717 RCV001257049
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Lys168Arg
CA134979
NM_004004.6:c.503A>G