ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741907189
Gene: GJB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2581406
ClinVar RCV Id:
RCV003331811
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.Cys64Tyr
CA387461656
NM_004004.6:c.191G>A