ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828375558
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_001357019.1:p.Val37Glu
CA253530
NM_001370090.1:c.110T>A