Canonical Allele Identifier: PA097363
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447435
ClinVar RCV Id: RCV000517827 RCV000789837 RCV000654852 RCV002248750 RCV002350137
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Arg183His
CA413503111
NM_000166.6:c.548G>A