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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.[Pro87Ser;Leu89_Met93delinsProSerGly;Val95del;Tyr97del;Arg99_Lys108del;Glu110_Ser113delinsLeuPro;Phe115_Lys116delinsThr]
CA912980096
NM_004004.6:c.258_259del