Canonical Allele Identifier: PA134967
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44745
ClinVar RCV Id: RCV000037847 RCV000325483 RCV000505535 RCV000626854 RCV000589067 RCV001109789 RCV001257158
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Arg127His
CA134966
NM_004004.6:c.380G>A