Canonical Allele Identifier: PA134961
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44739
ClinVar RCV Id: RCV000037838 RCV000505536 RCV000588130 RCV001112559 RCV001112560 RCV002496602
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Glu114Gly
CA134960
NM_004004.6:c.341A>G