Canonical Allele Identifier: PA2573254520
Gene: GJB6 HGNC NCBI
ClinVar RCV:
RCV001979775
ClinVar Variation:
1447347
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006774.2:p.Arg32Gln
CA6904513
NM_006783.5:c.95G>A