Canonical Allele Identifier: PA645385671
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 236061
ClinVar RCV Id: RCV000225073 RCV002265701 RCV002494615
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Trp134Arg
CA10581509
NM_004004.6:c.400T>C
CA387461230
NM_004004.6:c.400T>A