ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580282900
Gene: GJB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2137456
ClinVar RCV Id:
RCV003062564
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.Phe142del
CA2580614612
NM_004004.6:c.424_426del