Canonical Allele Identifier: PA658664419
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 447445
ClinVar RCV Id: RCV000518118
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Trp134_Thr135delinsSer
CA658656318
NM_004004.6:c.401_403del