Canonical Allele Identifier: PA113112
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17009
ClinVar RCV Id: RCV000018533 RCV000146023 RCV000211779 RCV000255157 RCV000678885 RCV000515418 RCV001027826 RCV001196233 RCV001257564 RCV002286400 RCV004532385
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Arg143Trp
CA172234
NM_004004.6:c.427C>T