ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645386885
Gene: GJB3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_076872.1:p.Val167Met
CA754846
NM_024009.3:c.499G>A