Canonical Allele Identifier: PA645385767
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 225375
ClinVar RCV Id: RCV000490342 RCV000505510 RCV001853385 RCV002283467 RCV002503834 RCV004530262 RCV001252673
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Met195Val
CA6904233
NM_004004.6:c.583A>G