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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000372299.4:p.Ser138Arg
CA387461198
ENST00000382848.5:c.414C>G
CA387461199
ENST00000382848.5:c.414C>A
CA387461204
ENST00000382848.5:c.412A>C