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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000372295.1:p.Ser139Arg
CA387461191
ENST00000382844.2:c.417C>G
CA387461192
ENST00000382844.2:c.417C>A
CA387461197
ENST00000382844.2:c.415A>C