Canonical Allele Identifier: PA658831320
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 560667
ClinVar RCV Id: RCV000678873
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Leu76Val
CA387461583
NM_004004.6:c.226C>G