Canonical Allele Identifier: PA099045
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21081
ClinVar RCV Id: RCV000020171 RCV000217618 RCV001064548 RCV000789665
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Val63Ile
CA341598
NM_000166.6:c.187G>A