ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829482052
Gene: GJB2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.[Val198_Ile201delinsGln;Ile203_Cys218del;Gly220Ter]
CA261653
NM_004004.6:c.592_600delinsCAGTGTTCATGACATTC