Canonical Allele Identifier: PA2741907234
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2506579
ClinVar RCV Id: RCV003236760
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val153_Tyr158dup
CA2077139122
NM_004004.6:c.458_475dup