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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000372299.4:p.Val43Leu
CA387461881
ENST00000382848.5:c.127G>C
CA387461883
ENST00000382848.5:c.127G>T