Canonical Allele Identifier: PA658699353
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 496215
ClinVar RCV Id: RCV000588875
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Gly59Arg
CA387461703
NM_004004.6:c.175G>C