Canonical Allele Identifier: PA127034
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17033
ClinVar RCV Id: RCV000022510 RCV000018561 RCV001851914
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Gly45Glu
CA127033
NM_004004.6:c.134G>A