Canonical Allele Identifier: PA913200963
Gene: GJB1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Trp132Arg
CA413502153
NM_001097642.3:c.394T>A
CA413502154
NM_001097642.3:c.394T>C