ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891852236
Gene: GJB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
585738
ClinVar RCV Id:
RCV000711345
RCV001830575
RCV002493261
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.Thr5Met
CA6904334
NM_004004.6:c.14C>T