ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499265348
Gene: GJB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1208558
ClinVar RCV Id:
RCV001576935
RCV001836454
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003995.2:p.Gln164Glu
CA6904258
NM_004004.6:c.490C>G