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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000407223.2:p.Phe193Leu
CA413503215
ENST00000447581.2:c.577T>C
CA413503220
ENST00000447581.2:c.579C>A
CA413503221
ENST00000447581.2:c.579C>G