Canonical Allele Identifier: PA2825557141
Gene: GJB6 HGNC NCBI
ClinVar RCV:
RCV001347103
ClinVar Variation:
1043052
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001103691.1:p.Ile118Val
CA387468300
NM_001110221.3:c.352A>G