ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825278155
Gene: GJB3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
786722
ClinVar RCV Id:
RCV000968824
RCV001101937
RCV002503056
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005752.1:p.Val84Ile
CA754785
NM_001005752.2:c.250G>A