ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253531
Gene: GJB6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5547
ClinVar RCV Id:
RCV000005886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006774.2:p.Val37Glu
CA253530
NM_006783.5:c.110T>A