ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828375733
Gene: GJB6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000038712
RCV001110051
RCV001852812
ClinVar Variation:
45507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357020.1:p.Val207Met
CA136468
NM_001370091.1:c.619G>A