Canonical Allele Identifier: PA2825077651
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637656
ClinVar RCV Id: RCV000789921

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Tyr151His
CA413502539
NM_000166.6:c.451T>C