Canonical Allele Identifier: PA2741907262
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2994400
ClinVar RCV Id: RCV003856039

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ile203Leu
CA387460810
NM_004004.6:c.607A>C