Canonical Allele Identifier: PA113385
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17019
ClinVar RCV Id: RCV000018545
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Trp44Cys
CA257679
NM_004004.6:c.132G>C
CA387461862
NM_004004.6:c.132G>T