Canonical Allele Identifier: PA113440
Gene: GJB2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val84Leu
CA172218
NM_004004.6:c.250G>C
CA234087
NM_004004.6:c.250G>T