Canonical Allele Identifier: PA098001
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10437
ClinVar RCV Id: RCV000256065 RCV000463876 RCV002326674 RCV000011182
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Leu156Arg
CA255245
NM_000166.6:c.467T>G