Canonical Allele Identifier: PA2828375596
Gene: GJB6 HGNC NCBI
ClinVar RCV:
RCV001347103
ClinVar Variation:
1043052
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357019.1:p.Ile118Val
CA387468300
NM_001370090.1:c.352A>G