Canonical Allele Identifier: PA658664339
Gene: GJB2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val63Leu
CA6904306
NM_004004.6:c.187G>T
CA387461664
NM_004004.6:c.187G>C