ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112677
Gene: GJB3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000006862
ClinVar Variation:
6489
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005752.1:p.Arg42Pro
CA118307
NM_001005752.2:c.125G>C