ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825278242
Gene: GJB3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005752.1:p.His243Tyr
CA339316073
NM_001005752.2:c.727C>T