Canonical Allele Identifier: PA274370
Gene: GJB2 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_003995.2:p.Tyr136Ter
NM_004004.6:c.407dup

NM_004004.6:c.408C>A

NM_004004.6:c.408C>A

NM_004004.6:c.408C>G