Canonical Allele Identifier: PA2573233266
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1490598
ClinVar RCV Id: RCV001978617
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Leu89Pro
CA387461510
NM_004004.6:c.266T>C