ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA241799
Gene: GJB3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_076872.1:p.Glu183Lys
CA241798
NM_024009.3:c.547G>A