Canonical Allele Identifier: PA2825077311
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 851291
ClinVar RCV Id: RCV001055661

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Leu90Pro
CA413501716
NM_000166.6:c.269T>C