Canonical Allele Identifier: PA645385719
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 424854
ClinVar RCV Id: RCV000487480 RCV001251627
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Met163Leu
CA16621538
NM_004004.6:c.487A>C
CA387461044
NM_004004.6:c.487A>T