Canonical Allele Identifier: PA2742018069
Gene: GJB4 HGNC NCBI
ClinVar RCV:
RCV003370595
ClinVar Variation:
2596632
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_694944.1:p.Trp3Arg
CA754446
NM_153212.3:c.7T>C
CA339299349
NM_153212.3:c.7T>A