Canonical Allele Identifier: PA658664399
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 447444
ClinVar RCV Id: RCV000518624 RCV000587927 RCV000666427
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Glu120Lys
CA6904276
NM_004004.6:c.358G>A