ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA117207
Gene: GJB4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5008
ClinVar RCV Id:
RCV000005311
RCV001836700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694944.1:p.Arg22His
CA117206
NM_153212.3:c.65G>A