Canonical Allele Identifier: PA097795
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 477598
ClinVar RCV Id: RCV000529489 RCV000789250
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Gly159Ser
CA413502674
NM_000166.6:c.475G>A