ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828375660
Gene: GJB6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1447347
ClinVar RCV Id:
RCV001979775
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357020.1:p.Arg32Gln
CA6904513
NM_001370091.1:c.95G>A