Canonical Allele Identifier: PA097352
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216039
ClinVar RCV Id: RCV000197033 RCV000235360 RCV000754745 RCV000789836
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Arg183Cys
CA336920
NM_000166.6:c.547C>T