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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Ser128del
CA413502105
NM_000166.6:c.383C>A
CA413502108
NM_000166.6:c.383C>G