Canonical Allele Identifier: PA658812541
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 520424
ClinVar RCV Id: RCV000623392

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Pro58Ser
CA387461710
NM_004004.6:c.172C>T