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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Gln48His
CA387461813
NM_004004.6:c.144G>T
CA387461815
NM_004004.6:c.144G>C