Canonical Allele Identifier: PA2825077089
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637194
ClinVar RCV Id: RCV000789258
ClinVar Variation Id: 2016455
ClinVar RCV Id: RCV002843908
ClinVar Variation Id: 2030048
ClinVar RCV Id: RCV002881128

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Ser62Arg
CA413501331
NM_000166.6:c.184A>C
CA413501341
NM_000166.6:c.186C>G
CA413501343
NM_000166.6:c.186C>A