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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.[Ser162_Asn170del;Trp172Ser;Pro175_Val182del;Arg184_Phe191delinsGlyTrp]
CA608984148
NM_004004.6:c.479_483dup