ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741907153
Gene: GJB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2575784
ClinVar RCV Id:
RCV003321350
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.Trp3Ser
CA387462281
NM_004004.6:c.8G>C