ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645385264
Gene: GJB2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.Thr8Met
CA6904332
NM_004004.6:c.23C>T