Canonical Allele Identifier: PA2825077528
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 655165
ClinVar RCV Id: RCV000811287
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Trp132Gly
CA413502157
NM_000166.6:c.394T>G