ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913197131
Gene: GJB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
633242
ClinVar RCV Id:
RCV000781416
RCV001873191
RCV004017739
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.His100Leu
CA387461446
NM_004004.6:c.299A>T