Canonical Allele Identifier: PA097827
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447427
ClinVar RCV Id: RCV000516335 RCV000654839 RCV000789852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Gly59Arg
CA413501278
NM_000166.6:c.175G>C