Canonical Allele Identifier: PA2580282948
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1966753
ClinVar RCV Id: RCV002716802

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Met195Leu
CA246459818
NM_004004.6:c.583A>T
CA387460851
NM_004004.6:c.583A>C