Canonical Allele Identifier: PA097430
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406228
ClinVar RCV Id: RCV000475257 RCV000517974 RCV000789225 RCV000853377 RCV002365620
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Arg22Gln
CA16616533
NM_000166.6:c.65G>A