ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112708
Gene: GJB3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000006856
RCV002512854
ClinVar Variation:
6483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005752.1:p.Gly12Asp
CA118303
NM_001005752.2:c.35G>A