Canonical Allele Identifier: PA113158
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44766
ClinVar RCV Id: RCV000037873 RCV000411577 RCV000410025 RCV001218538 RCV001374640 RCV004534808
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Arg32His
CA261654
NM_004004.6:c.95G>A