Canonical Allele Identifier: PA658663642
Gene: GJB1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Thr18Ser
CA413500633
NM_001097642.3:c.52A>T
CA413500639
NM_001097642.3:c.53C>G