Canonical Allele Identifier: PA2573083499
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1313785
ClinVar RCV Id: RCV001769431
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Thr137Arg
CA387461206
NM_004004.6:c.410C>G