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Canonical Allele Identifier: Get Identifier
Gene: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502766.1:p.His16Gln
CA413499547
ENST00000674549.1:c.48T>G
CA413499550
ENST00000674549.1:c.48T>A