Canonical Allele Identifier: PA097346
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217170
ClinVar RCV Id: RCV000201175 RCV000307118 RCV000793229
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Arg164Trp
CA277620
NM_000166.6:c.490C>T