Canonical Allele Identifier: PA184191
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 179318
ClinVar RCV Id: RCV000156107 RCV002516147
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Met157Thr
CA184190
NM_004004.6:c.470T>C