Canonical Allele Identifier: PA113360
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21385

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ser113Arg
CA342004
NM_004004.6:c.339T>G
CA387461355
NM_004004.6:c.339T>A
CA387461359
NM_004004.6:c.337A>C